Varaico: Literature-Extracted Genetic Variants

Gene:OCA2
Variant:p.V443I
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OCA2

NM_001300984.2:p.V443I

Associated Papers

Unsuspected consequences of synonymous and missense variants in OCA2 can be detected in blood cell RNA samples of patients with albinism.

Michaud V et al.

Pigment Cell & Melanoma Research, 2024

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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."