Varaico: Literature-Extracted Genetic Variants

Gene:OCA2
Variant:p.D441_N442insFs
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OCA2

NM_000275.3:p.D441_N442insFs

Associated Papers

High frequency of Hermansky-Pudlak syndrome type 1 (HPS1) among Japanese albinism patients and functional analysis of HPS1 mutant protein.

Ito S et al.

The Journal of Investigative Dermatology, 2005

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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."