Pathogenic: light or dark skin?

doi:10.1002/humu.22543

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Article

Pathogenic: light or dark skin?

Human mutation - 1 May 2014

den Dunnen Johan T

Abstract excerpt

Currently, we use the term "pathogenicity" to indicate whether a variant in a gene has an influence on the phenotype or not. As this term is confusing, not neutral, and incorrectly refers to a disease state, it seems better to use a more neutral term. The suggestion is to use "affects function."

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PMID: 24610774
DOI: 10.1002/humu.22543

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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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