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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HPS6

Variant:p.A81S

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HPS6

NM_024747.6:p.A81S

hg38:chr10:102065715 G>T

Associated Papers

Masks of Albinism: Clinical Spectrum of Hermansky-Pudlak Syndrome.

Bobreshova AM et al.

International Journal of Molecular Sciences, 2024

39457042 (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."