Varaico: Literature-Extracted Genetic Variants

Gene:DCT
Variant:p.R278*
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DCT

NM_001922.5:p.R278*

Associated Papers

Prospective Study of the Phenotypic and Mutational Spectrum of Ocular Albinism and Oculocutaneous Albinism.

Chan HW et al.

Genes, 2021

Tyrosinase gene mutations in the Chinese Han population with OCA1.

Liu N et al.

Genetics Research, 2014

Molecular basis of albinism in India: evaluation of seven potential candidate genes and some new findings.

Mondal M et al.

Gene, 2012

Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism.

Oetting WS et al.

Human Mutation, 1999

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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."