Varaico: Literature-Extracted Genetic Variants

Gene:HPS4
Variant:p.W92_V93Splc
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HPS4

NM_022081.6:p.W92_V93Splc

Associated Papers

Report of Hermansky-Pudlak Syndrome in Two Families with Novel Variants in HPS3 and HPS4 Genes.

Zaman Q et al.

Genes, 2023

Hermansky-Pudlak syndrome: Mutation update.

Huizing M et al.

Human Mutation, 2020

Identification and clinical characterization of Hermansky-Pudlak syndrome alleles in the Pakistani population.

Yousaf S et al.

Pigment Cell & Melanoma Research, 2016

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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."