Varaico: Literature-Extracted Genetic Variants

Gene:BLOC1S6
Variant:p.H96fs
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BLOC1S6

NM_012388.4:p.H96fs

Associated Papers

A Novel Likely Pathogenic Variant in the BLOC1S5 Gene Associated with Hermansky-Pudlak Syndrome Type 11 and an Overview of Human BLOC-1 Deficiencies.

Boeckelmann D et al.

Cells, 2021

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."