Varaico: Literature-Extracted Genetic Variants

Gene:HPS1
Variant:p.G639S
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HPS1

NM_000195.5:p.G639S

Associated Papers

Novel variant in HPS3 gene in a patient with Hermansky Pudlak syndrome (HPS) type 3.

Lecchi A et al.

Platelets, 2020

Hermansky-Pudlak syndrome: Mutation update.

Huizing M et al.

Human Mutation, 2020

Familial Pulmonary Fibrosis and Hermansky-Pudlak Syndrome Rare Missense Mutations in Context.

Stearman RS et al.

American Journal of Respiratory and Critical Care Medicine, 2019

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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."