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Most Rare Missense Alleles Are Deleterious in Humans: Implications for Complex Disease and Association Studies

The accumulation of mildly deleterious missense mutations in individual human genomes has been proposed to be a genetic basis for complex diseases. The plausibility of this hypothesis depends on quantitative estimates of the prevalence of mildly deleterious de novo mutations and polymorphic variants...

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Detalhes bibliográficos
Main Authors: Kryukov, Gregory V., Pennacchio, Len A., Sunyaev, Shamil R.
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society of Human Genetics 2007
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1852724/
https://ncbi.nlm.nih.gov/pubmed/17357078
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