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1Academic Journal
المؤلفون: Alan F. Rubin, Jeremy Stone, Aisha Haley Bianchi, Benjamin J. Capodanno, Estelle Y. Da, Mafalda Dias, Daniel Esposito, Jonathan Frazer, Yunfan Fu, Sally B. Grindstaff, Matthew R. Harrington, Iris Li, Abbye E. McEwen, Joseph K. Min, Nick Moore, Olivia G. Moscatelli, Jesslyn Ong, Polina V. Polunina, Joshua E. Rollins, Nathan J. Rollins, Ashley E. Snyder, Amy Tam, Matthew J. Wakefield, Shenyi Sunny Ye, Lea M. Starita, Vanessa L. Bryant, Debora S. Marks, Douglas M. Fowler
المصدر: Genome Biology, Vol 26, Iss 1, Pp 1-11 (2025)
مصطلحات موضوعية: Multiplexed assays of variant effect, MAVEs, Deep mutational scanning, DMS, Variant classification, Functional genomics, Biology (General), QH301-705.5, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1474-760X
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2Academic Journal
المؤلفون: Moez Dawood, Shawn Fayer, Sriram Pendyala, Mason Post, Divya Kalra, Karynne Patterson, Eric Venner, Lara A. Muffley, Douglas M. Fowler, Alan F. Rubin, Jennifer E. Posey, Sharon E. Plon, James R. Lupski, Richard A. Gibbs, Lea M. Starita, Carla Daniela Robles-Espinoza, Willow Coyote-Maestas, Irene Gallego Romero
المصدر: Genome Medicine, Vol 16, Iss 1, Pp 1-16 (2024)
مصطلحات موضوعية: MAVE, Multiplexed assay of variant effects, Variants of uncertain significance, VUS, Pathogenic, Benign, Medicine, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1756-994X
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3Academic Journal
المؤلفون: Nasa Sinnott-Armstrong, Stanley Fields, Frederick Roth, Lea M Starita, Cole Trapnell, Judit Villen, Douglas M Fowler, Christine Queitsch
المصدر: eLife, Vol 13 (2024)
مصطلحات موضوعية: gene–environment interactions, multiplexed assays of variant effect, epistasis, Medicine, Science, Biology (General), QH301-705.5
وصف الملف: electronic resource
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4Academic Journal
المؤلفون: Martin Grønbæk-Thygesen, Vasileios Voutsinos, Kristoffer E. Johansson, Thea K. Schulze, Matteo Cagiada, Line Pedersen, Lene Clausen, Snehal Nariya, Rachel L. Powell, Amelie Stein, Douglas M. Fowler, Kresten Lindorff-Larsen, Rasmus Hartmann-Petersen
المصدر: Nature Communications, Vol 15, Iss 1, Pp 1-18 (2024)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2041-1723
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5Academic Journal
المؤلفون: Ayesha Muhammad, Maria E. Calandranis, Bian Li, Tao Yang, Daniel J. Blackwell, M. Lorena Harvey, Jeremy E. Smith, Zerubabell A. Daniel, Ashli E. Chew, John A. Capra, Kenneth A. Matreyek, Douglas M. Fowler, Dan M. Roden, Andrew M. Glazer
المصدر: Genome Medicine, Vol 16, Iss 1, Pp 1-20 (2024)
مصطلحات موضوعية: Multiplexed assay of variant effect, Long QT syndrome, KCNE1, Ion channel, Arrhythmia, Saturation mutagenesis, Medicine, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1756-994X
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6Academic Journal
المؤلفون: Lene Clausen, Vasileios Voutsinos, Matteo Cagiada, Kristoffer E. Johansson, Martin Grønbæk-Thygesen, Snehal Nariya, Rachel L. Powell, Magnus K. N. Have, Vibe H. Oestergaard, Amelie Stein, Douglas M. Fowler, Kresten Lindorff-Larsen, Rasmus Hartmann-Petersen
المصدر: Nature Communications, Vol 15, Iss 1, Pp 1-17 (2024)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2041-1723
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7Academic Journal
المؤلفون: Douglas M. Fowler, David J. Adams, Anna L. Gloyn, William C. Hahn, Debora S. Marks, Lara A. Muffley, James T. Neal, Frederick P. Roth, Alan F. Rubin, Lea M. Starita, Matthew E. Hurles
المصدر: Genome Biology, Vol 24, Iss 1, Pp 1-12 (2023)
مصطلحات موضوعية: Multiplexed assay of variant effect, Genome interpretation, Variant effect, Saturation mutagenesis, Functional genomics, Global alliance, Biology (General), QH301-705.5, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1474-760X
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8Academic Journal
المؤلفون: Shantanu Jain, Constantina Bakolitsa, Steven E Brenner, Predrag Radivojac, John Moult, Susanna Repo, Roger A Hoskins, Gaia Andreoletti, Daniel Barsky, Ajithavalli Chellapan, Hoyin Chu, Navya Dabbiru, Naveen K Kollipara, Melissa Ly, Andrew J Neumann, Lipika R Pal, Eric Odell, Gaurav Pandey, Robin C Peters-Petrulewicz, Rajgopal Srinivasan, Stephen F Yee, Sri Jyothsna Yeleswarapu, Maya Zuhl, Ogun Adebali, Ayoti Patra, Michael A Beer, Raghavendra Hosur, Jian Peng, Brady M Bernard, Michael Berry, Shengcheng Dong, Alan P Boyle, Aashish Adhikari, Jingqi Chen, Zhiqiang Hu, Robert Wang, Yaqiong Wang, Maximilian Miller, Yanran Wang, Yana Bromberg, Paola Turina, Emidio Capriotti, James J Han, Kivilcim Ozturk, Hannah Carter, Giulia Babbi, Samuele Bovo, Pietro Di Lena, Pier Luigi Martelli, Castrense Savojardo, Rita Casadio, Melissa S Cline, Greet De Baets, Sandra Bonache, Orland Díez, Sara Gutiérrez-Enríquez, Alejandro Fernández, Gemma Montalban, Lars Ootes, Selen Özkan, Natàlia Padilla, Casandra Riera, Xavier De la Cruz, Mark Diekhans, Peter J Huwe, Qiong Wei, Qifang Xu, Roland L Dunbrack, Valer Gotea, Laura Elnitski, Gennady Margolin, Piero Fariselli, Ivan V Kulakovskiy, Vsevolod J Makeev, Dmitry D Penzar, Ilya E Vorontsov, Alexander V Favorov, Julia R Forman, Marcia Hasenahuer, Maria S Fornasari, Gustavo Parisi, Ziga Avsec, Muhammed H Çelik, Thi Yen Duong Nguyen, Julien Gagneur, Fang-Yuan Shi, Matthew D Edwards, Yuchun Guo, Kevin Tian, Haoyang Zeng, David K Gifford, Jonathan Göke, Jan Zaucha, Julian Gough, Graham R S Ritchie, Adam Frankish, Jonathan M Mudge, Jennifer Harrow, Erin L Young, Yao Yu, Chad D Huff, Katsuhiko Murakami, Yoko Nagai, Tadashi Imanishi, Christopher J Mungall, Julius O B Jacobsen, Dongsup Kim, Chan-Seok Jeong, David T Jones, Mulin Jun Li, Violeta Beleva Guthrie, Rohit Bhattacharya, Yun-Ching Chen, Christopher Douville, Jean Fan, Dewey Kim, David Masica, Noushin Niknafs, Sohini Sengupta, Collin Tokheim, Tychele N Turner, Hui Ting Grace Yeo, Rachel Karchin, Sunyoung Shin, Rene Welch, Sunduz Keles, Yue Li, Manolis Kellis, Carles Corbi-Verge, Alexey V Strokach, Philip M Kim, Teri E Klein, Rahul Mohan, Nicholas A Sinnott-Armstrong, Michael Wainberg, Anshul Kundaje, Nina Gonzaludo, Angel C Y Mak, Aparna Chhibber, Hugo Y K Lam, Dvir Dahary, Simon Fishilevich, Doron Lancet, Insuk Lee, Benjamin Bachman, Panagiotis Katsonis, Rhonald C Lua, Stephen J Wilson, Olivier Lichtarge, Rajendra R Bhat, Laksshman Sundaram, Vivek Viswanath, Riccardo Bellazzi, Giovanna Nicora, Ettore Rizzo, Ivan Limongelli, Aziz M Mezlini, Ray Chang, Serra Kim, Carmen Lai, Robert O'Connor, Scott Topper, Jeroen van den Akker, Alicia Y Zhou, Anjali D Zimmer, Gilad Mishne, Timothy R Bergquist, Marcus R Breese, Rafael F Guerrero, Yuxiang Jiang, Nikki Kiga, Biao Li, Matthew Mort, Kymberleigh A Pagel, Vikas Pejaver, Moses H Stamboulian, Janita Thusberg, Sean D Mooney, Nuttinee Teerakulkittipong, Chen Cao, Kunal Kundu, Yizhou Yin, Chen-Hsin Yu, Michael Kleyman, Chiao-Feng Lin, Mary Stackpole, Stephen M Mount, Gökcen Eraslan, Nikola S Mueller, Tatsuhiko Naito, Aliz R Rao, Johnathan R Azaria, Aharon Brodie, Yanay Ofran, Aditi Garg, Debnath Pal, Alex Hawkins-Hooker, Henry Kenlay, John Reid, Eliseos J Mucaki, Peter K Rogan, Jana M Schwarz, David B Searls, Gyu Rie Lee, Chaok Seok, Andreas Krämer, Sohela Shah, ChengLai V Huang, Jack F Kirsch, Maxim Shatsky, Yue Cao, Haoran Chen, Mostafa Karimi, Oluwaseyi Moronfoye, Yuanfei Sun, Yang Shen, Ron Shigeta, Colby T Ford, Conor Nodzak, Aneeta Uppal, Xinghua Shi, Thomas Joseph, Sujatha Kotte, Sadhna Rana, Aditya Rao, V G Saipradeep, Naveen Sivadasan, Uma Sunderam, Mario Stanke, Andrew Su, Ivan Adzhubey, Daniel M Jordan, Shamil Sunyaev, Frederic Rousseau, Joost Schymkowitz, Joost Van Durme, Sean V Tavtigian, Marco Carraro, Manuel Giollo, Silvio C E Tosatto, Orit Adato, Liran Carmel, Noa E Cohen, Tzila Fenesh, Tamar Holtzer, Tamar Juven-Gershon, Ron Unger, Abhishek Niroula, Ayodeji Olatubosun, Jouni Väliaho, Yang Yang, Mauno Vihinen, Mary E Wahl, Billy Chang, Ka Chun Chong, Inchi Hu, Rui Sun, William Ka Kei Wu, Xiaoxuan Xia, Benny C Zee, Maggie H Wang, Meng Wang, Chunlei Wu, Yutong Lu, Ken Chen, Yuedong Yang, Christopher M Yates, Anat Kreimer, Zhongxia Yan, Nir Yosef, Huying Zhao, Zhipeng Wei, Zhaomin Yao, Fengfeng Zhou, Lukas Folkman, Yaoqi Zhou, Roxana Daneshjou, Russ B Altman, Fumitaka Inoue, Nadav Ahituv, Adam P Arkin, Federica Lovisa, Paolo Bonvini, Sarah Bowdin, Stefano Gianni, Elide Mantuano, Velia Minicozzi, Leonore Novak, Alessandra Pasquo, Annalisa Pastore, Maria Petrosino, Rita Puglisi, Angelo Toto, Liana Veneziano, Roberta Chiaraluce, Mad P Ball, Jason R Bobe, George M Church, Valerio Consalvi, David N Cooper, Bethany A Buckley, Molly B Sheridan, Garry R Cutting, Maria Chiara Scaini, Kamil J Cygan, Alger M Fredericks, David T Glidden, Christopher Neil, Christy L Rhine, William G Fairbrother, Aileen Y Alontaga, Aron W Fenton, Kenneth A Matreyek, Lea M Starita, Douglas M Fowler, Britt-Sabina Löscher, Andre Franke, Scott I Adamson, Brenton R Graveley, Joe W Gray, Mary J Malloy, John P Kane, Maria Kousi, Nicholas Katsanis, Max Schubach, Martin Kircher, Paul L F Tang, Pui-Yan Kwok, Richard H Lathrop, Wyatt T Clark, Guoying K Yu, Jonathan H LeBowitz, Francesco Benedicenti, Elisa Bettella, Stefania Bigoni, Federica Cesca, Isabella Mammi, Cristina Marino-Buslje, Donatella Milani, Angela Peron, Roberta Polli, Stefano Sartori, Franco Stanzial, Irene Toldo, Licia Turolla, Maria C Aspromonte, Mariagrazia Bellini, Emanuela Leonardi, Xiaoming Liu, Christian Marshall, W Richard McCombie, Lisa Elefanti, Chiara Menin, M Stephen Meyn, Alessandra Murgia, Kari C Y Nadeau, Susan L Neuhausen, Robert L Nussbaum, Mehdi Pirooznia, James B Potash, Dago F Dimster-Denk, Jasper D Rine, Jeremy R Sanford, Michael Snyder, Atina G Cote, Song Sun, Marta W Verby, Jochen Weile, Frederick P Roth, Ryan Tewhey, Pardis C Sabeti, Joan Campagna, Marwan M Refaat, Julianne Wojciak, Soren Grubb, Nicole Schmitt, Jay Shendure, Amanda B Spurdle, Dimitri J Stavropoulos, Nephi A Walton, Peter P Zandi, Elad Ziv, Wylie Burke, Flavia Chen, Lawrence R Carr, Selena Martinez, Jodi Paik, Julie Harris-Wai, Mark Yarborough, Stephanie M Fullerton, Barbara A Koenig, Gregory McInnes, Dustin Shigaki, John-Marc Chandonia, Mabel Furutsuki, Laura Kasak, Changhua Yu, Rui Chen, Iddo Friedberg, Gad A Getz, Qian Cong, Lisa N Kinch, Jing Zhang, Nick V Grishin, Alin Voskanian, Maricel G Kann, Elizabeth Tran, Nilah M Ioannidis, Jesse M Hunter, Rupa Udani, Binghuang Cai, Alexander A Morgan, Artem Sokolov, Joshua M Stuart, Giovanni Minervini, Alexander M Monzon, Serafim Batzoglou, Atul J Butte, Marc S Greenblatt, Reece K Hart, Ryan Hernandez, Tim J P Hubbard, Scott Kahn, Anne O'Donnell-Luria, Pauline C Ng, John Shon, Joris Veltman, Justin M Zook
المساهمون: Jain, Shantanu, Bakolitsa, Constantina, E Brenner, Steven, Radivojac, Predrag, Moult, John, Repo, Susanna, A Hoskins, Roger, Andreoletti, Gaia, Barsky, Daniel, Chellapan, Ajithavalli, Chu, Hoyin, Dabbiru, Navya, K Kollipara, Naveen, Ly, Melissa, J Neumann, Andrew, R Pal, Lipika, Odell, Eric, Pandey, Gaurav, C Peters-Petrulewicz, Robin, Srinivasan, Rajgopal, F Yee, Stephen, Jyothsna Yeleswarapu, Sri, Zuhl, Maya, Adebali, Ogun, Patra, Ayoti, A Beer, Michael, Hosur, Raghavendra, Peng, Jian, M Bernard, Brady, Berry, Michael, Dong, Shengcheng, P Boyle, Alan, Adhikari, Aashish, Chen, Jingqi, Hu, Zhiqiang, Wang, Robert, Wang, Yaqiong, Miller, Maximilian, Wang, Yanran, Bromberg, Yana, Turina, Paola, Capriotti, Emidio, J Han, Jame, Ozturk, Kivilcim, Carter, Hannah, Babbi, Giulia, Bovo, Samuele, Di Lena, Pietro, Luigi Martelli, Pier, Savojardo, Castrense, Casadio, Rita, S Cline, Melissa, De Baets, Greet, Bonache, Sandra, Díez, Orland, Gutiérrez-Enríquez, Sara, Fernández, Alejandro, Montalban, Gemma, Ootes, Lar, Özkan, Selen, Padilla, Natàlia, Riera, Casandra, De la Cruz, Xavier, Diekhans, Mark, J Huwe, Peter, Wei, Qiong, Xu, Qifang, L Dunbrack, Roland, Gotea, Valer, Elnitski, Laura, Margolin, Gennady, Fariselli, Piero, V Kulakovskiy, Ivan, J Makeev, Vsevolod, D Penzar, Dmitry, E Vorontsov, Ilya, V Favorov, Alexander, R Forman, Julia, Hasenahuer, Marcia, S Fornasari, Maria, Parisi, Gustavo, Avsec, Ziga, H Çelik, Muhammed, Yen Duong Nguyen, Thi, Gagneur, Julien, Shi, Fang-Yuan, D Edwards, Matthew, Guo, Yuchun, Tian, Kevin, Zeng, Haoyang, K Gifford, David, Göke, Jonathan, Zaucha, Jan, Gough, Julian, S Ritchie, Graham R, Frankish, Adam, M Mudge, Jonathan, Harrow, Jennifer, L Young, Erin, Yu, Yao
مصطلحات موضوعية: genetic variant, missense mutation, protein stability
Relation: info:eu-repo/semantics/altIdentifier/pmid/38389099; volume:22; issue:22;25(1):53.; firstpage:1; lastpage:46; numberofpages:46; journal:GENOME BIOLOGY; https://hdl.handle.net/11573/1703621; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85185859716
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9Academic Journal
المؤلفون: Willow Coyote-Maestas, David Nedrud, Antonio Suma, Yungui He, Kenneth A. Matreyek, Douglas M. Fowler, Vincenzo Carnevale, Chad L. Myers, Daniel Schmidt
المصدر: Nature Communications, Vol 12, Iss 1, Pp 1-16 (2021)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2041-1723
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10Academic Journal
المؤلفون: Michael Rappleye, Sarah J. Wait, Justin Daho Lee, Jamison C. Siebart, Lily Torp, Netta Smith, Jeanot Muster, Kenneth A. Matreyek, Douglas M. Fowler, Andre Berndt
مصطلحات موضوعية: Biophysics, Biochemistry, Medicine, Genetics, Molecular Biology, Biotechnology, Cancer, Space Science, Biological Sciences not elsewhere classified, Information Systems not elsewhere classified, vast mutational landscape, functionally tests thousands, fold signal increase, binding specific ligands, based optogenetic tools, 500 nm damgo, throughput engineering platform, slows gefi development, new opioid sensor, gefi encoding dna, engineering optogenetic tools, parent scaffold ’, mammalian host systems, distinct biophysical properties, new dopamine sensor, gefi variants, parent construct, biophysical function, 000 dopamine, new sensors
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11Academic Journal
المؤلفون: Kenneth A. Matreyek, Jason J. Stephany, Ethan Ahler, Douglas M. Fowler
المصدر: Genome Medicine, Vol 13, Iss 1, Pp 1-17 (2021)
مصطلحات موضوعية: PTEN, Protein variants, Multiplex assays of variant effect, Cancer genomics, Dominant-negative, VAMP-seq, Medicine, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1756-994X
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12Academic Journal
المؤلفون: John C. Rose, Nicholas A. Popp, Christopher D. Richardson, Jason J. Stephany, Julie Mathieu, Cindy T. Wei, Jacob E. Corn, Dustin J. Maly, Douglas M. Fowler
المصدر: Nature Communications, Vol 11, Iss 1, Pp 1-11 (2020)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2041-1723
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13Academic Journal
المؤلفون: Nicholas Hasle, Anthony Cooke, Sanjay Srivatsan, Heather Huang, Jason J Stephany, Zachary Krieger, Dana Jackson, Weiliang Tang, Sriram Pendyala, Raymond J Monnat, Cole Trapnell, Emily M Hatch, Douglas M Fowler
المصدر: Molecular Systems Biology, Vol 16, Iss 6, Pp 1-18 (2020)
مصطلحات موضوعية: genetic screening, microscopy, pharmacology, subcellular localization, transcriptomics, Biology (General), QH301-705.5, Medicine (General), R5-920
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1744-4292
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14Academic Journal
المؤلفون: Rachel Dalton, Seung‐been Lee, Katrina G. Claw, Bhagwat Prasad, Brian R. Phillips, Danny D. Shen, Lai Hong Wong, Mitch Fade, Matthew G. McDonald, Maitreya J. Dunham, Douglas M. Fowler, Allan E. Rettie, Erin Schuetz, Timothy A. Thornton, Deborah A. Nickerson, Andrea Gaedigk, Kenneth E. Thummel, Erica L. Woodahl
المصدر: Clinical and Translational Science, Vol 13, Iss 1, Pp 147-156 (2020)
مصطلحات موضوعية: Therapeutics. Pharmacology, RM1-950, Public aspects of medicine, RA1-1270
وصف الملف: electronic resource
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15Academic Journal
المؤلفون: Hannah Gelman, Jennifer N. Dines, Jonathan Berg, Alice H. Berger, Sarah Brnich, Fuki M. Hisama, Richard G. James, Alan F. Rubin, Jay Shendure, Brian Shirts, Douglas M. Fowler, Lea M. Starita, On behalf of the Brotman Baty Institute Mutational Scanning Working Group
المصدر: Genome Medicine, Vol 11, Iss 1, Pp 1-11 (2019)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1756-994X
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16Academic Journal
المؤلفون: Vanessa E. Gray, Katherine Sitko, Floriane Z. Ngako Kameni, Miriam Williamson, Jason J. Stephany, Nicholas Hasle, Douglas M. Fowler
المصدر: G3: Genes, Genomes, Genetics, Vol 9, Iss 11, Pp 3683-3689 (2019)
مصطلحات موضوعية: amyloid, amyloid beta, deep mutational scanning, protein aggregation, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2160-1836
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17Academic Journal
المؤلفون: Daniel Esposito, Jochen Weile, Jay Shendure, Lea M. Starita, Anthony T. Papenfuss, Frederick P. Roth, Douglas M. Fowler, Alan F. Rubin
المصدر: Genome Biology, Vol 20, Iss 1, Pp 1-11 (2019)
مصطلحات موضوعية: Deep mutational scanning, Massively parallel reporter assays, Large-scale mutagenesis, MAVE, Multiplexed assay of variant effect, Genome interpretation, Biology (General), QH301-705.5, Genetics, QH426-470
وصف الملف: electronic resource
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18Academic Journal
المؤلفون: Kenneth A. Matreyek (11567118), Jason J. Stephany (11567121), Ethan Ahler (417528), Douglas M. Fowler (11567124)
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19Academic Journal
المؤلفون: Melissa A Chiasson, Nathan J Rollins, Jason J Stephany, Katherine A Sitko, Kenneth A Matreyek, Marta Verby, Song Sun, Frederick P Roth, Daniel DeSloover, Debora S Marks, Allan E Rettie, Douglas M Fowler
المصدر: eLife, Vol 9 (2020)
مصطلحات موضوعية: membrane protein, pharmacogenetics, multiplex, Medicine, Science, Biology (General), QH301-705.5
وصف الملف: electronic resource
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20Academic Journal
المؤلفون: John Z Chen, Douglas M Fowler, Nobuhiko Tokuriki
المصدر: eLife, Vol 9 (2020)
مصطلحات موضوعية: antibiotic resistance, deep mutational scanning, metallo-beta-lactamase, VIM-2, substrate specificity, Medicine, Science, Biology (General), QH301-705.5
وصف الملف: electronic resource