Varaico: Literature-Extracted Genetic Variants

Gene:HPS1
Variant:p.F22insFs
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HPS1

NM_000195.5:p.F22insFs

Associated Papers

Characterization of melanosomes and melanin in Japanese patients with Hermansky-Pudlak syndrome types 1, 4, 6, and 9.

Okamura K et al.

Pigment Cell & Melanoma Research, 2018

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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."