Varaico: Literature-Extracted Genetic Variants

Gene:OCA2
Variant:p.R455Splc
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OCA2

NM_000275.3:p.R455Splc

Associated Papers

Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population.

Shahzad M et al.

Scientific Reports, 2017

28266639 (PubMed )
Supplement: srep44185-s1.pdf

Comprehensive analysis of the molecular basis of oculocutaneous albinism in Indian patients lacking a mutation in the tyrosinase gene.

Sengupta M et al.

The British Journal of Dermatology, 2010

SLC45A2 variations in Indian oculocutaneous albinism patients.

Sengupta M et al.

Molecular Vision, 2007

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."