Varaico: Literature-Extracted Genetic Variants

Gene:BLOC1S6
Variant:p.S67*
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BLOC1S6

NM_012388.4:p.S67*

Associated Papers

A novel deletion in the BLOC1S6 Gene Associated with Hermansky-Pudlak syndrome type 9 (HPS-9).

Kahani SM et al.

Bmc Genomics, 2024

A new case with Hermansky-Pudlak syndrome type 9, a rare cause of syndromic albinism with severe defect of platelets dense bodies.

Michaud V et al.

Platelets, 2021

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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."