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Article

Improving the in silico assessment of pathogenicity for compensated variants.

European journal of human genetics : EJHG - 1 Jan 2016

Azevedo Luisa, Mort Matthew, Costa Antonio C, Silva Raquel M, Quelhas Dulce, Amorim Antonio, Cooper David N

Abstract excerpt

Understanding the functional sequelae of amino-acid replacements is of fundamental importance in medical genetics. Perhaps, the most intuitive way to assess the potential pathogenicity of a given human missense variant is by measuring the degree of evolutionary conservation of the substituted amino-acid residue, a feature that generally serves as a good proxy metric for the functional/structural importance of...

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Identifiers

PMID: 27703146
DOI: 10.1038/ejhg.2016.129
PMCID: PMC5159764

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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