Varaico: Literature-Extracted Genetic Variants

Gene:TYRP1
Variant:p.D123delFs
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TYRP1

NM_000550.3:p.D123delFs

Associated Papers

Common and Founder Mutations for Monogenic Traits in Sub-Saharan African Populations.

Krause A et al.

Annual Review of Genomics and Human Genetics, 2018

A large insertion in intron 2 of the TYRP1 gene associated with American Palomino phenotype in American mink.

Cirera S et al.

Mammalian Genome : Official Journal of the International Mammalian Genome Society, 2016

Melanesian blond hair is caused by an amino acid change in TYRP1.

Kenny EE et al.

Science (new York, N.y.), 2012

Identification of novel TYR and TYRP1 mutations in oculocutaneous albinism.

Forshew T et al.

Clinical Genetics, 2005

Identification of P gene mutations in individuals with oculocutaneous albinism in sub-Saharan Africa.

Kerr R et al.

Human Mutation, 2000

Rufous oculocutaneous albinism in southern African Blacks is caused by mutations in the TYRP1 gene.

Manga P et al.

American Journal of Human Genetics, 1997

The tyrosinase-positive oculocutaneous albinism gene shows locus homogeneity on chromosome 15q11-q13 and evidence of multiple mutations in southern African negroids.

Kedda MA et al.

American Journal of Human Genetics, 1994

Allelism in human oculocutaneous albinism.

Warren ST

American Journal of Human Genetics, 1981

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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."