Common homozygosity for predicted loss-of-function variants reveals both redundant and advantageous effects of dispensable human genes

Humans homozygous or hemizygous for variants predicted to cause a loss of function (LoF) of the corresponding protein do not necessarily present with overt clinical phenotypes. We report here 190 autosomal genes with 207 predicted LoF variants, for which the frequency of homozygous individuals excee...

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Detalhes bibliográficos
Publicado no:Proc Natl Acad Sci U S A
Main Authors: Rausell, Antonio, Luo, Yufei, Lopez, Marie, Seeleuthner, Yoann, Rapaport, Franck, Favier, Antoine, Stenson, Peter D., Cooper, David N., Patin, Etienne, Casanova, Jean-Laurent, Quintana-Murci, Lluis, Abel, Laurent
Formato: Artigo
Idioma:Inglês
Publicado em: National Academy of Sciences 2020
Assuntos:
Biological Sciences
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7306792/
https://ncbi.nlm.nih.gov/pubmed/32487729
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1917993117
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