Varaico: Literature-Extracted Genetic Variants

Gene:OCA2
Variant:p.R305Q
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OCA2

NM_000275.3:p.R305Q

Associated Papers

Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts.

Cirulli ET et al.

Nature Communications, 2020

31992710 (PubMed )
Supplement: 41467_2020_14288_MOESM1_ESM.pdf

Computational screening of disease-associated mutations in OCA2 gene.

Kamaraj B et al.

Cell Biochemistry and Biophysics, 2014

Pigmentation-related genes and their implication in malignant melanoma susceptibility.

Fernandez LP et al.

Experimental Dermatology, 2009

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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."