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Article

Characterisation of a second gain of function EDAR variant, encoding EDAR380R, in East Asia.

European journal of human genetics : EJHG - 1 Dec 2020

Riddell Jon, Basu Mallick Chandana, Jacobs Guy S, Schoenebeck Jeffrey J, Headon Denis J

Abstract excerpt

Ectodysplasin A1 receptor (EDAR) is a TNF receptor family member with roles in the development and growth of hair, teeth and glands. A derived allele of EDAR, single-nucleotide variant rs3827760, encodes EDAR:p.(Val370Ala), a receptor with more potent signalling effects than the ancestral EDAR370Val. This allele of rs3827760 is at very high frequency in modern East Asian and Native American populations as a...

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PMID: 32499598
DOI: 10.1038/s41431-020-0660-6
PMCID: PMC7784991

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