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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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Autori principali: Ng, Pauline C., Henikoff, Steven
Natura: Artigo
Lingua:Inglês
Pubblicazione: Cold Spring Harbor Laboratory Press 2002
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC155281/
https://ncbi.nlm.nih.gov/pubmed/11875032
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/gr.212802
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