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Article

Four novel variants in MC1R in red-haired South African individuals of European descent: S83P, Y152X, A171D, P256S.

Human mutation - 1 Apr 2002

John Premila R, Ramsay Michele

Abstract excerpt

Skin, hair and eye pigmentation is a polygenic multifactorial trait determined by the cumulative effects of multiple genetic variants and environmental factors. MC1R is one of the genes involved in pigmentation, and has been implicated in the red hair and pale skin trait in human Caucasoid individuals. This study was undertaken to investigate variants in the MC1R gene in Caucasoid individuals in South Africa, who...

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Identifiers

PMID: 11933208
DOI: 10.1002/humu.9030

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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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