Varaico: Literature-Extracted Genetic Variants

Gene:CRYBG1
Variant:p.A272T
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CRYBG1

NM_001371242.2:p.A272T

Associated Papers

Promoter polymorphisms in the MATP (SLC45A2) gene are associated with normal human skin color variation.

Graf J et al.

Human Mutation, 2007

Evidence for recent positive selection at the human AIM1 locus in a European population.

Soejima M et al.

Molecular Biology and Evolution, 2006

Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4.

Rundshagen U et al.

Human Mutation, 2004

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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."