Varaico: Literature-Extracted Genetic Variants

Gene:TYR
Variant:p.W39*
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TYR

NM_000372.5:p.W39*

Associated Papers

Genetic analyses of Vietnamese patients with oculocutaneous albinism.

Thuong MTH et al.

Journal of Clinical Laboratory Analysis, 2022

Clinical evaluation and molecular screening of a large consecutive series of albino patients.

Mauri L et al.

Journal of Human Genetics, 2017

Tyrosinase gene mutations in oculocutaneous albinism 1 (OCA1): definition of the phenotype.

King RA et al.

Human Genetics, 2003

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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."