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Loss-of-function variants in the genomes of healthy humans

Genetic variants predicted to seriously disrupt the function of human protein-coding genes—so-called loss-of-function (LOF) variants—have traditionally been viewed in the context of severe Mendelian disease. However, recent large-scale sequencing and genotyping projects have revealed a surprisingly...

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Detalhes bibliográficos
Main Authors: MacArthur, Daniel G., Tyler-Smith, Chris
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2010
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2953739/
https://ncbi.nlm.nih.gov/pubmed/20805107
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddq365
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