Varaico: Literature-Extracted Genetic Variants

Gene:HPS3
Variant:p.C393_F394insFs
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HPS3

NM_032383.5:p.C393_F394insFs

Associated Papers

Hermansky-Pudlak syndrome type 1: gene organization, novel mutations, and clinical-molecular review of non-Puerto Rican cases.

Hermos CR et al.

Human Mutation, 2002

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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."