Varaico: Literature-Extracted Genetic Variants

Gene:HPS5
Variant:p.L475delFs
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HPS5

NM_181507.2:p.L475delFs

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

Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5.

Stephen J et al.

Plos One, 2017

Hermansky-Pudlak syndrome (HPS5) in a nonagenarian.

Summers CG et al.

Journal of Aapos : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus, 2014

Clinical, molecular, and cellular features of non-Puerto Rican Hermansky-Pudlak syndrome patients of Hispanic descent.

Carmona-Rivera C et al.

The Journal of Investigative Dermatology, 2011

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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."