Varaico: Literature-Extracted Genetic Variants

Gene:TYR
Variant:p.L6F
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TYR

NM_000372.5:p.L6F

Associated Papers

Functional assessment of tyrosinase variants identified in individuals with albinism is essential for unequivocal determination of genotype-to-phenotype correlation.

Mondal M et al.

The British Journal of Dermatology, 2016

The albinism of the feral Asinara white donkeys (Equus asinus) is determined by a missense mutation in a highly conserved position of the tyrosinase (TYR) gene deduced protein.

Utzeri VJ et al.

Animal Genetics, 2016

Mutational analysis of TYR gene and its structural consequences in OCA1A.

K B et al.

Gene, 2013

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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."