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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HPS5

Variant:p.E634*

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HPS5

NM_181507.2:p.E634*

hg38:chr11:18291982 C>A

Associated Papers

Clinical Features and Novel Genetic Variants Associated with Hermansky-Pudlak Syndrome.

Chen C et al.

Genes, 2022

35886065 (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."