Varaico: Literature-Extracted Genetic Variants

Gene:BLOC1S4
Variant:p.S4G
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BLOC1S4

NM_018366.3:p.S4G

Associated Papers

Hermansky-Pudlak syndrome: Mutation update.

Huizing M et al.

Human Mutation, 2020

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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."