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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BLOC1S3

Variant:p.Q150fs

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BLOC1S3

NM_212550.5:p.Q150fs

hg38:chr19:45179744 CAG>N

Associated Papers

Novel variants in the BLOC1S3 gene in patients presenting a mild form of Hermansky-Pudlak syndrome.

Pennamen P et al.

Pigment Cell & Melanoma Research, 2021

32687635 (PubMed )

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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."