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Widespread purifying selection at polymorphic sites in human protein-coding loci

Estimation of gene diversity (heterozygosity) at 1,442 single-nucleotide polymorphism (SNP) loci in an ethnically diverse sample of humans revealed consistently reduced gene diversities at SNP loci causing amino acid changes, particularly those causing amino acid changes predicted to be disruptive t...

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Veröffentlicht in:Proc Natl Acad Sci U S A
Hauptverfasser: Hughes, Austin L., Packer, Bernice, Welch, Robert, Bergen, Andrew W., Chanock, Stephen J., Yeager, Meredith
Format: Artigo
Sprache:Inglês
Veröffentlicht: National Academy of Sciences 2003
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Online-Zugang:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC307640/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/14660790/
https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.2536718100
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