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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HPS5

Variant:p.G984Splc

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HPS5

NM_181507.2:p.G984Splc

hg38:chr11:18283914 C>T

Associated Papers

Synonymous but Significant: New Findings of Pathological Variants in Hermansky-Pudlak Syndrome.

Kawaguchi J et al.

Pigment Cell & Melanoma Research, 2025

39988965 (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."