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Article

A phylogenetic approach to assessing the significance of missense mutations in disease genes.

Human mutation - 1 Jul 2003

Santibáñez Koref M F, Gangeswaran R, Santibáñez Koref I P, Shanahan N, Hancock J M

Abstract excerpt

The identification of deleterious mutations within candidate genes is a crucial step in the elucidation of the genetic bases of human disease. However, the significance of any base or amino acid change within a gene is unknown until detailed structural and functional analysis has been carried out...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 12815593
DOI: 10.1002/humu.10235

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-12815593-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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