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Article

Quantifying harmful mutations in human populations.

European journal of human genetics : EJHG - 1 Dec 2012

Subramanian Sankar

Abstract excerpt

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 protein-coding genes were analyzed. Based on two independent methods, this study reveals that up to 53% of rare nSNPs...

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PMID: 22510852
DOI: 10.1038/ejhg.2012.68
PMCID: PMC3499755

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MAF

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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