Varaico: Literature-Extracted Genetic Variants

Gene:HPS5
Variant:p.C579Y
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HPS5

NM_181507.2:p.C579Y

Associated Papers

Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6.

Zhang Q et al.

Nature Genetics, 2003

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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."