Varaico: Literature-Extracted Genetic Variants

Gene:TYR
Variant:p.P384A
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TYR

NM_000372.5:p.P384A

Associated Papers

A community-science approach identifies genetic variants associated with three color morphs in ball pythons (Python regius).

Brown AR et al.

Plos One, 2022

Identification and Computational Analysis of Novel TYR and SLC45A2 Gene Mutations in Pakistani Families With Identical Non-syndromic Oculocutaneous Albinism.

Bibi N et al.

Frontiers in Genetics, 2020

32849781 (PubMed )
Supplement: Data_Sheet_2.docx

Retrospective analysis in oculocutaneous albinism patients for the 2.7 kb deletion in the OCA2 gene revealed a co-segregation of the controversial variant, p.R305W.

Gao J et al.

Cell & Bioscience, 2017

DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics.

Simeonov DR et al.

Human Mutation, 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."