Varaico: Literature-Extracted Genetic Variants

Gene:AR
Variant:p.V275F
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AR

NM_000044.6:p.V275F

Associated Papers

Novel mutations of the tyrosinase (TYR) gene in type I oculocutaneous albinism (OCA1).

Spritz RA et al.

Human Mutation, 1997

Molecular genetics of oculocutaneous albinism.

Spritz RA

Human Molecular Genetics, 1994

Molecular genetics of oculocutaneous albinism.

Spritz RA

Seminars in Dermatology, 1993

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."