Varaico: Literature-Extracted Genetic Variants

Gene:TYR
Variant:p.T164A
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TYR

NM_000372.5:p.T164A

Associated Papers

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

Mauri L et al.

Journal of Human Genetics, 2017

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

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."