Accounting for Human Polymorphisms Predicted to Affect Protein Function

A major interest in human genetics is to determine whether a nonsynonymous single-base nucleotide polymorphism (nsSNP) in a gene affects its protein product and, consequently, impacts the carrier's health. We used the SIFT (Sorting Intolerant From Tolerant) program to predict that 25% of 3084 n...

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Détails bibliographiques
Auteurs principaux: Ng, Pauline C., Henikoff, Steven
Format: Texte
Langue:anglais
Publié: Cold Spring Harbor Laboratory Press 2002
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Accès en ligne:https://pmc.ncbi.nlm.nih.gov/articles/PMC155281/
https://pubmed.ncbi.nlm.nih.gov/11875032
http://dx.doi.org/10.1101/gr.212802
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