Varaico: Literature-Extracted Genetic Variants

Gene:HPS5
Variant:p.G145E
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HPS5

NM_181507.2:p.G145E

Associated Papers

Hermansky-Pudlak syndrome: Mutation update.

Huizing M et al.

Human Mutation, 2020

Clinico-molecular analysis of eleven patients with Hermansky-Pudlak type 5 syndrome, a mild form of HPS.

Michaud V et al.

Pigment Cell & Melanoma Research, 2017

An immunoblotting assay to facilitate the molecular diagnosis of Hermansky-Pudlak syndrome.

Nazarian R et al.

Molecular Genetics and Metabolism, 2008

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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."