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Quantifying harmful mutations in human populations

A number of previous studies suggested the presence of deleterious amino acid altering nonsynonymous single-nucleotide polymorphisms (nSNPs) in human populations. However, the proportions of deleterious nSNPs among rare and common variants are not known. To estimate these, >77 000 SNPs from human...

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Detalhes bibliográficos
Autor principal: Subramanian, Sankar
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2012
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3499755/
https://ncbi.nlm.nih.gov/pubmed/22510852
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2012.68
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