Varaico: Literature-Extracted Genetic Variants

Gene:HPS1
Variant:p.K622E
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HPS1

NM_000195.5:p.K622E

Associated Papers

Cryo-EM structure of the BLOC-3 complex provides insights into the pathogenesis of Hermansky-Pudlak syndrome.

Yong X et al.

Nature Communications, 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."