Varaico: Literature-Extracted Genetic Variants

Gene:TYRP1
Variant:p.E294K
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TYRP1

NM_000550.3:p.E294K

Associated Papers

Prenatal molecular diagnosis of oculocutaneous albinism (OCA) in a large cohort of Israeli families.

Rosenmann A et al.

Prenatal Diagnosis, 2009

Mutation analysis of the tyrosinase gene in oculocutaneous albinism.

Camand O et al.

Human Mutation, 2001

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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."