Varaico: Literature-Extracted Genetic Variants

Gene:HPS1
Variant:p.I94insFs
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HPS1

NM_000195.5:p.I94insFs

Associated Papers

Insights into the renal pathophysiology in Hermansky-Pudlak syndrome-1 from urinary extracellular vesicle proteomics and a new mouse model.

Maynard DM et al.

Febs Letters, 2025

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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."