المؤلفون: Vigeland, G.L. Opheim, Aa Erichsen, I.-L. Mero, H.H. Mørk, A. Blomhoff, Kaja Kristine Selmer, Ying Sheng

المصدر: Human molecular genetics. 26(19)

مصطلحات موضوعية: 0301 basic medicine, Contracture, Nonsense-mediated decay, Limb Deformities, Congenital, Nerve Tissue Proteins, Biology, medicine.disease_cause, Frameshift mutation, 03 medical and health sciences, Exon, symbols.namesake, 0302 clinical medicine, Fetus, Loss of Function Mutation, Pregnancy, Intellectual Disability, Genetics, medicine, Humans, Exome, Frameshift Mutation, Molecular Biology, Genetics (clinical), Exome sequencing, Sanger sequencing, Mutation, Homozygote, Membrane Proteins, Heterozygote advantage, General Medicine, Exons, Nonsense Mediated mRNA Decay, 030104 developmental biology, Codon, Nonsense, symbols, Female, 030217 neurology & neurosurgery, Hydrocephalus

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::93b3a009106b15d66b607f443ef3b6bf
https://pubmed.ncbi.nlm.nih.gov/28934391