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1Academic Journal
المؤلفون: Borda, Victor, Loesch, Douglas P, Guo, Bing, Laboulaye, Roland, Veliz-Otani, Diego, French, Jennifer N, Leal, Thiago Peixoto, Gogarten, Stephanie M, Ikpe, Sunday, Gouveia, Mateus H, Mendes, Marla, Abecasis, Gonçalo R, Alvim, Isabela, Arboleda-Bustos, Carlos E, Arboleda, Gonzalo, Arboleda, Humberto, Barreto, Mauricio L, Barwick, Lucas, Bezzera, Marcos A, Blangero, John, Borges, Vanderci, Caceres, Omar, Cai, Jianwen, Chana-Cuevas, Pedro, Chen, Zhanghua, Custer, Brian, Dean, Michael, Dinardo, Carla, Domingos, Igor, Duggirala, Ravindranath, Dieguez, Elena, Fernandez, Willian, Ferraz, Henrique B, Gilliland, Frank, Guio, Heinner, Horta, Bernardo, Curran, Joanne E, Johnsen, Jill M, Kaplan, Robert C, Kelly, Shannon, Kenny, Eimear E, Konkle, Barbara A, Kooperberg, Charles, Lescano, Andres, Lima-Costa, M Fernanda, Loos, Ruth J F, Manichaikul, Ani, Meyers, Deborah A, Rienstra, Michiel, Weiss, Scott T
المصدر: Latin American Research Consortium on the Genetics of Parkinson’s Disease (LARGE-PD) , Borda , V , Loesch , D P , Guo , B , Laboulaye , R , Veliz-Otani , D , French , J N , Leal , T P , Gogarten , S M , Ikpe , S , Gouveia , M H , Mendes , M , Abecasis , G R , Alvim , I , Arboleda-Bustos , C E , Arboleda , G , Arboleda , H , Barreto , M L , Barwick , L , Bezzera , M A , Blangero , ....
مصطلحات موضوعية: Humans, Latin America, Genetics, Population, Genome-Wide Association Study, Haplotypes, Algorithms, Genetic Variation/genetics, Software
وصف الملف: application/pdf
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2Academic Journal
المؤلفون: Christinat, Y., Hamelin, B., Alborelli, I., Angelino, P., Barbié, V., Bisig, B., Dawson, H., Frattini, M., Grob, T., Jochum, W., Nienhold, R., McKee, T., Matter, M., Missiaglia, E., Molinari, F., Rothschild, S., Sobottka-Brillout, A.B., Vassella, E., Zoche, M., Mertz, K.D.
المصدر: Virchows Archiv, vol. 485, no. 6, pp. 1033-1039
مصطلحات موضوعية: Humans, Consensus, Genetic Testing/methods, Genetic Variation/genetics, High-Throughput Nucleotide Sequencing, Neoplasms/genetics, Neoplasms/pathology, Neoplasms/diagnosis, Pathology, Molecular/standards, Societies, Medical/standards, Switzerland, Cancer, Guidelines, NGS reporting, Swiss Society of Molecular Pathology
وصف الملف: application/pdf
Relation: info:eu-repo/semantics/altIdentifier/pmid/39443383; info:eu-repo/semantics/altIdentifier/eissn/1432-2307; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_9449E5D834688; https://serval.unil.ch/notice/serval:BIB_9449E5D83468; https://serval.unil.ch/resource/serval:BIB_9449E5D83468.P001/REF.pdf
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3Academic Journal
المؤلفون: Hughes, Gareth
المصدر: GenOMICC Investigators , SCOURGE Consortium , ISARICC Investigators , The 23andMe COVID-19 Team , et al. , & Hughes , G 2023 , ' GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19. ' , Nature , vol. 617 , no. 7962 , pp. 764-768 . https://doi.org/10.1038/s41586-023-06034-3
مصطلحات موضوعية: COVID-19/genetics, Critical Illness, Genetic Predisposition to Disease/genetics, Genetic Variation/genetics, Genome-Wide Association Study, Genotype, Genotyping Techniques, Humans, Monocytes/metabolism, Phenotype, Transcriptome, Whole Genome Sequencing, rab GTP-Binding Proteins/genetics
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4Academic Journal
المؤلفون: Meier, C.S., Pagni, M., Richard, S., Mühlethaler, K., Almeida, JMGCF, Nevez, G., Cushion, M.T., Calderón, E.J., Hauser, P.M.
المصدر: Nature communications, vol. 14, no. 1, pp. 7026
مصطلحات موضوعية: Humans, Mosaicism, Pneumocystis carinii/genetics, Antigenic Variation/genetics, DNA, Fungal/genetics
وصف الملف: application/pdf
Relation: info:eu-repo/semantics/altIdentifier/pmid/37919276; info:eu-repo/semantics/altIdentifier/eissn/2041-1723; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_EC236B91675E0; https://serval.unil.ch/notice/serval:BIB_EC236B91675E; https://serval.unil.ch/resource/serval:BIB_EC236B91675E.P001/REF.pdf
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5Academic Journal
المؤلفون: Aziz, N. Ahmad, Wüllner, Ullrich
المصدر: Movement disorders 38(4), 703-705 (2023). doi:10.1002/mds.29341
مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Humans, Parkinson Disease: drug therapy, Parkinson Disease: genetics, Mendelian Randomization Analysis, Disease Susceptibility, Genetic Variation: genetics, Genome-Wide Association Study, Risk Factors, Polymorphism, Single Nucleotide: genetics
جغرافية الموضوع: DE
Relation: info:eu-repo/semantics/altIdentifier/issn/1531-8257; info:eu-repo/semantics/altIdentifier/pmid/pmid:36782054; info:eu-repo/semantics/altIdentifier/issn/0885-3185; https://pub.dzne.de/record/249931; https://pub.dzne.de/search?p=id:%22DZNE-2023-00246%22
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6Academic Journal
المصدر: the 23 and Me Research Team 2022 , ' Genetic diversity fuels gene discovery for tobacco and alcohol use ' , Nature , vol. 612 , no. 7941 , pp. 720-724 . https://doi.org/10.1038/s41586-022-05477-4
مصطلحات موضوعية: Humans, Genetic Predisposition to Disease/genetics, Genetic Variation/genetics, Genome-Wide Association Study/methods, Multifactorial Inheritance/genetics, Risk Factors, Tobacco Use/genetics, Alcohol Drinking/genetics, Transcriptome, Sample Size, Genetic Loci/genetics, Internationality, Europe/ethnology
وصف الملف: application/pdf
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7Academic Journal
المصدر: Petersen , H C , Hansen , B W , Knott , K E & Banta , G T 2022 , ' Species and genetic diversity relationships in benthic macroinvertebrate communities along a salinity gradient ' , BMC Ecology and Evolution , vol. 22 , no. 1 , 125 . https://doi.org/10.1186/s12862-022-02087-6
مصطلحات موضوعية: Genetic diversity, Macrobenthos, Salinity, SGDC, Spatial and temporal patterns, Species diversity, Ultra-conserved elements, Animals, Ecosystem, Invertebrates/genetics, Biodiversity, Genetic Variation/genetics
وصف الملف: application/pdf
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8Academic Journal
المؤلفون: Loong, L., Garrett, A., Allen, S., Choi, S., Durkie, M., Callaway, A., Drummond, J., Burghel, G. J., Robinson, R., Torr, B., Berry, I. R., Wallace, A. J., Eccles, D. M., Ellard, S., Baple, E., Evans, D. G., Woodward, E. R., Kulkarni, A., Lalloo, F., Tischkowitz, M., Lucassen, A., Hanson, H., Turnbull, C.
مصطلحات موضوعية: Genetic Predisposition to Disease, Genetic Testing, Genetic Variation/genetics, Humans, Laboratories, Neoplasms/diagnosis/genetics, Classification, Reclassification, Recontact, Reinterpretation, Variant
Relation: https://linkinghub.elsevier.com/retrieve/pii/S1098-3600(22)00757-2; Genet Med. 2022 Sep;24(9):1867-1877. doi:10.1016/j.gim.2022.05.002. Epub 2022 Jun 3.; Genetics in medicine; https://hdl.handle.net/11287/622660
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9Academic Journal
المؤلفون: Van der Auwera, Sandra, Klinger-König, Johanna, Wittfeld, Katharina, Terock, Jan, Hannemann, Anke, Bülow, Robin, Nauck, Matthias, Völker, Uwe, Völzke, Henry, Grabe, Hans Jörgen
المصدر: European archives of psychiatry and clinical neuroscience 272(8), 1505-1516 (2022). doi:10.1007/s00406-022-01420-w
مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Humans, Receptors, Glucocorticoid: genetics, Hydrocortisone, Glucocorticoids, Hippocampus: diagnostic imaging, Hippocampus: metabolism, Genetic Variation: genetics, Gene Expression, DNA Methylation, Cortisol, Glucocorticoid receptor, Hippocampus, NR3C1, Verbal memory, rs56149945
جغرافية الموضوع: DE
Relation: info:eu-repo/semantics/altIdentifier/issn/0175-758X; info:eu-repo/semantics/altIdentifier/issn/1433-8491; info:eu-repo/semantics/altIdentifier/issn/0940-1334; info:eu-repo/semantics/altIdentifier/issn/0003-9373; info:eu-repo/semantics/altIdentifier/pmid/pmid:35579746; https://pub.dzne.de/record/164025; https://pub.dzne.de/search?p=id:%22DZNE-2022-00688%22
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10Academic Journal
المؤلفون: van den Brandt, A., Jonkheer, Eef M., van Workum, Dirk-Jan M., van de Wetering, Huub, Smit, Sandra, Vilanova, A.
المصدر: van den Brandt , A , Jonkheer , E M , van Workum , D-J M , van de Wetering , H , Smit , S & Vilanova , A 2024 , ' PanVA : Pangenomic Variant Analysis ' , IEEE Transactions on Visualization and Computer Graphics , vol. 30 , no. 8 , 10143227 , pp. 4895-4909 . https://doi.org/10.1109/TVCG.2023.3282364
مصطلحات موضوعية: Bioinformatics, DNA, Genomics, Organisms, Phylogeny, Task analysis, Visual analytics, Visualization, comparative genomics, design study, pangenomics, variant analysis, User-Computer Interface, Genetic Variation/genetics, Computer Graphics, Phenotype, Software
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11Dissertation/ Thesis
المؤلفون: Davidson, Scott
مصطلحات موضوعية: 591.35, Evolutionary genetics, Gene science, Variation (Genetics), Genomics
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12Academic Journal
المصدر: Iacovelli , R , Mózsik , L , Bovenberg , R A L & Driessen , A J M 2021 , ' Identification of a conserved N-terminal domain in the first module of ACV synthetases ' , MicrobiologyOpen , vol. 10 , no. 1 , e1145 . https://doi.org/10.1002/mbo3.1145
مصطلحات موضوعية: antibiotics, Nocardia lactamdurans, nonribosomal peptide synthetases, penicillin biosynthesis, Penicillium rubens, Amino Acid Sequence, Anti-Bacterial Agents/biosynthesis, Protein Domains/genetics, Genetic Variation/genetics, Penicillium/enzymology, Peptide Synthases/genetics, beta-Lactams/metabolism, 2-Aminoadipic Acid/metabolism, Biosynthetic Pathways/genetics, Amycolatopsis/enzymology, Cysteine/chemistry
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13Academic Journal
المؤلفون: Loong, L, Cubuk, C, Choi, S, Allen, S, Torr, B, Garrett, A, Loveday, C, Durkie, M, Callaway, A, Burghel, GJ, Drummond, J, Robinson, R, Berry, IR, Wallace, A, CanVIG-UK
المصدر: Loong , L , Cubuk , C , Choi , S , Allen , S , Torr , B , Garrett , A , Loveday , C , Durkie , M , Callaway , A , Burghel , GJ , Drummond , J , Robinson , R , Berry , IR , Wallace , A & CanVIG-UK 2021 , ' Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants. ' , Genetics in medicine : official journal of the American College of Medical Genetics , vol. 24 , no. 3 ....
مصطلحات موضوعية: BRCA1 Protein/genetics, Codon, Genetic Predisposition to Disease, Genetic Variation/genetics, Humans, MutS Homolog 2 Protein/genetics, Mutation, Missense/genetics
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14Academic Journal
المؤلفون: Cuellar-Partida, G., Tung, J.Y., Eriksson, N., Albrecht, E., Aliev, F., Andreassen, O.A., Barroso, I., Beckmann, J.S., Boks, M.P., Boomsma, D.I., Boyd, H.A., Breteler, MMB, Campbell, H., Chasman, D.I., Cherkas, L.F., Davies, G., de Geus, EJC, Deary, I.J., Deloukas, P., Dick, D.M., Duffy, D.L., Eriksson, J.G., Esko, T., Feenstra, B., Geller, F., Gieger, C., Giegling, I., Gordon, S.D., Han, J., Hansen, T.F., Hartmann, A.M., Hayward, C., Heikkilä, K., Hicks, A.A., Hirschhorn, J.N., Hottenga, J.J., Huffman, J.E., Hwang, L.D., Ikram, M.A., Kaprio, J., Kemp, J.P., Khaw, K.T., Klopp, N., Konte, B., Kutalik, Z., Lahti, J., Li, X., Loos, RJF, Luciano, M., Magnusson, S.H., Mangino, M., Marques-Vidal, P., Martin, N.G., McArdle, W.L., McCarthy, M.I., Medina-Gomez, C., Melbye, M., Melville, S.A., Metspalu, A., Milani, L., Mooser, V., Nelis, M., Nyholt, D.R., O'Connell, K.S., Ophoff, R.A., Palmer, C., Palotie, A., Palviainen, T., Pare, G., Paternoster, L., Peltonen, L., Penninx, BWJH, Polasek, O., Pramstaller, P.P., Prokopenko, I., Raikkonen, K., Ripatti, S., Rivadeneira, F., Rudan, I., Rujescu, D., Smit, J.H., Smith, G.D., Smoller, J.W., Soranzo, N., Spector, T.D., Pourcain, B.S., Starr, J.M., Stefánsson, H., Steinberg, S., Teder-Laving, M., Thorleifsson, G., Stefánsson, K., Timpson, N.J., Uitterlinden, A.G., van Duijn, C.M., van Rooij, FJA, Vink, J.M., Vollenweider, P., Vuoksimaa, E., Waeber, G., Wareham, N.J., Warrington, N., Waterworth, D., Werge, T., Wichmann, H.E., Widen, E., Willemsen, G., Wright, A.F., Wright, M.J., Xu, M., Zhao, J.H., Kraft, P., Hinds, D.A., Lindgren, C.M., Mägi, R., Neale, B.M., Evans, D.M., Medland, S.E.
المصدر: Nature human behaviour, vol. 5, no. 1, pp. 59-70
مصطلحات موضوعية: Adult, Aged, Female, Functional Laterality/genetics, Gene Frequency/genetics, Genetic Loci/genetics, Genetic Variation/genetics, Genome-Wide Association Study, Humans, Linkage Disequilibrium, Male, Middle Aged, Polymorphism, Single Nucleotide/genetics, Quantitative Trait, Heritable, Sex Factors
وصف الملف: application/pdf
Relation: info:eu-repo/semantics/altIdentifier/pmid/32989287; info:eu-repo/semantics/altIdentifier/eissn/2397-3374; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_E7424914D13E8; https://serval.unil.ch/notice/serval:BIB_E7424914D13E; https://serval.unil.ch/resource/serval:BIB_E7424914D13E.P001/REF.pdf
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15Academic Journal
المؤلفون: Wolking, Stefan, Moreau, Claudia, McCormack, Mark, Krause, Roland, Krenn, Martin, EpiPGx Consortium, Berkovic, Samuel F, Cavalleri, Gianpiero L, Delanty, Norman, Depondt, Chantal, Johnson, Michael R, Koeleman, B.P.C., Kunz, Wolfgang Gerhard, Lerche, Holger, Marson, Anthony Guy, O'Brien, Terence, Petrovski, Slave, Sander, Josemir W, Sills, Graeme, Striano, Pasquale, Zara, Federico, Zimprich, Fritz, Sisodiya, Sanjay M, Girard, S, Cossette, Patrick
المصدر: Annals of clinical and translational neurology, 8 (7
مصطلحات موضوعية: Sciences bio-médicales et agricoles, Cohort Studies, Drug Resistant Epilepsy -- diagnosis -- genetics, Female, Genetic Association Studies -- methods, Genetic Variation -- genetics, Humans, Male, Polymorphism, Single Nucleotide -- genetics, Exome Sequencing -- methods
وصف الملف: 2 full-text file(s): application/pdf | application/pdf
Relation: uri/info:doi/10.1002/acn3.51374; uri/info:pmid/34018700; uri/info:scp/85106975765; uri/info:pmcid/PMC8283173; https://dipot.ulb.ac.be/dspace/bitstream/2013/364690/1/PMC8283173.pdf; https://dipot.ulb.ac.be/dspace/bitstream/2013/364690/5/ACN3-8-1376.pdf; http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/364690
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16Academic Journal
المؤلفون: Ancien, F., Pucci, Fabrizio, Rooman, Marianne
المصدر: International journal of molecular sciences, 22 (9
مصطلحات موضوعية: Chimie organique, Spectroscopie [électromagnétisme, optique, acoustique], Spectroscopie [état condense], Biologie moléculaire, Catalyses hétérogène et homogène, Physico-chimie générale, Chimie théorique, Chimie inorganique, Informatique appliquée logiciel, Computer Simulation, Databases, Genetic, Exons -- genetics, Genetic Variation -- genetics, Humans, Mutation -- genetics, Niemann-Pick Diseases -- genetics -- metabolism, Phenotype, Severity of Illness Index, Sphingolipids -- genetics -- metabolism, Sphingomyelin Phosphodiesterase -- genetics -- metabolism, Disease severity prediction, Genetic variants, Niemann-Pick disease, Parkinson disease, Sphingomyelin phosphodiesterase
وصف الملف: 1 full-text file(s): application/pdf
Relation: uri/info:doi/10.3390/ijms22094516; uri/info:pii/ijms22094516; uri/info:pmid/33925997; uri/info:scp/85104609171; uri/info:pmcid/PMC8123603; https://dipot.ulb.ac.be/dspace/bitstream/2013/325010/1/doi_308654.pdf; http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/325010
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17Academic Journal
المؤلفون: D'Antonio, Matteo, Nguyen, Jennifer P, Arthur, Timothy D, Matsui, Hiroko, COVID-19 Host Genetics Initiative, D'Antonio-Chronowska, Agnieszka, Frazer, Kelly A
المساهمون: Moutschen, Michel
المصدر: Cell Reports, 37 (7), 110020 (2021)
مصطلحات موضوعية: COVID-19, GWAS, SARS-CoV-2, colocalization, eQTL, COVID-19/genetics, Chromosome Mapping/methods, Computational Biology/methods, Databases, Genetic, Ethnicity/genetics, Gene Expression/genetics, Gene Expression Profiling/methods, Genetic Predisposition to Disease/genetics, Genetic Variation/genetics, Genome-Wide Association Study/methods, Humans, Organ Specificity/genetics, Polymorphism, Single Nucleotide/genetics, Quantitative Trait Loci/genetics, SARS-CoV-2/genetics, SARS-CoV-2/pathogenicity, Severity of Illness Index, Transcriptome/genetics, Chromosome Mapping, Computational Biology, Ethnic Groups, Gene Expression, Gene Expression Profiling
Relation: https://api.elsevier.com/content/article/PII:S2211124721015023?httpAccept=text/xml; urn:issn:2211-1247; https://orbi.uliege.be/handle/2268/308412; info:hdl:2268/308412; info:pmid:34762851
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18Academic Journal
المؤلفون: Lawniczak, Mara K N, Begun, David J
المصدر: Genetical Research. 86(2)
مصطلحات موضوعية: Animals, Chromosome Mapping, Crosses, Genetic, Drosophila Proteins, Drosophila melanogaster, Female, Genes, Insect, Genetic Markers, Genome, Linkage (Genetics), Male, Models, Statistical, Phenotype, Quantitative Trait Loci, Selection (Genetics), Sex Factors, Sexual Behavior, Animal, Sperm Motility, Spermatozoa, Time Factors, Variation (Genetics)
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/1bm129f6
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19Academic Journal
المؤلفون: Martiny, A. C, Jorgensen, T. M, Albrechtsen, H.-J., Arvin, E., Molin, S.
المصدر: Applied and Environmental Microbiology. 69(11)
مصطلحات موضوعية: bacteria, biofilms, cloning, molecular, dna, ribosomal, ecosystem, fresh water, microscopy, confocal, models, biological, molecular sequence data, phylogeny, polymorphism, restriction fragment length, rna, ribosomal, 16s, sequence analysis, dna, variation (genetics), water supply
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/43x4n9k2
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20Academic Journal
المؤلفون: Gerlich, Wolfram, Glebe, Dieter, Kramvis, Anna, Magnius, Lars O.
المصدر: http://lobid.org/resources/99370676569406441#!, 56(2):109-119.
مصطلحات موضوعية: Hepatitis B virus/pathogenicity [MeSH], Hepatitis B Antibodies/immunology [MeSH], Hepatitis B Core Antigens/immunology [MeSH], Hepatitis B/virology [MeSH], Hepatitis B virus/immunology [MeSH], Subtypes, Hepatitis B e Antigens/immunology [MeSH], Genetic Variation/immunology [MeSH], Hepatitis B Antibodies/classification [MeSH], Terminology as Topic [MeSH], Hepatitis B Surface Antigens/classification [MeSH], HBV, Humans [MeSH], pre-S, Epitopes/immunology [MeSH], Hepatitis B/immunology [MeSH], Genetic Variation/genetics [MeSH], Editorial, Subgenotypes, Hepatitis B Surface Antigens/immunology [MeSH], HBsAg, Epitopes/genetics [MeSH], Hepatitis B/genetics [MeSH], pre-C, HBeAg, Hepatitis B Core Antigens/classification [MeSH], Hepatitis B e Antigens/classification [MeSH]
Relation: https://repository.publisso.de/resource/frl:6468626; https://doi.org/10.1007/s11262-020-01733-9; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7093336/