Varaico: Literature-Extracted Genetic Variants

Gene:TYR
Variant:p.W80C
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TYR

NM_000372.5:p.W80C

Associated Papers

Clinical and Mutation Spectrum of Autosomal Recessive Non-Syndromic Oculocutaneous Albinism (nsOCA) in Pakistan: A Review.

Ullah MI

Genes, 2022

Tyrosinase (TYR) gene sequencing and literature review reveals recurrent mutations and multiple population founder gene mutations as causative of oculocutaneous albinism (OCA) in Pakistani families.

Shakil M et al.

Eye (london, England), 2019

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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."