Varaico: Literature-Extracted Genetic Variants

Gene:HPS3
Variant:p.V481I
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HPS3

NM_032383.5:p.V481I

Associated Papers

Updated Analysis of Albinism in Japan: 290 Families With Novel Pathological Variants.

Okamura K et al.

Pigment Cell & Melanoma Research, 2025

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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."