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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HPS1

Variant:p.E24*

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HPS1

NM_000195.5:p.E24*

hg38:chr10:98443171 C>A

Associated Papers

Kidney melanosis associated with a novel HSP-1 Hermansky-Pudlak oculocutaneous albinism mutation: a case report.

Ali AA et al.

Bmc Nephrology, 2025

40646442 (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."