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Pathogenic: Light or Dark Skin?
Author(s) -
Dunnen Johan T.
Publication year - 2014
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.22543
Subject(s) - biology , pathogenicity , phenotype , term (time) , genetics , function (biology) , gene , computational biology , microbiology and biotechnology , physics , quantum mechanics
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.”