MutationTaster评估序列改变的致病潜力。 - Suppr

MutationTaster evaluates disease-causing potential of sequence alterations.

作者信息

Schwarz Jana Marie, Rödelsperger Christian, Schuelke Markus, Seelow Dominik

出版信息

Nat Methods. 2010 Aug;7(8):575-6. doi: 10.1038/nmeth0810-575.

DOI:10.1038/nmeth0810-575

PMID:20676075

Abstract

摘要

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PMUT: a web-based tool for the annotation of pathological mutations on proteins.

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The PANTHER database of protein families, subfamilies, functions and pathways.

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MutationTaster evaluates disease-causing potential of sequence alterations.

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