Varaico: Literature-Extracted Genetic Variants

Gene:HPS4
Variant:p.Q620*
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HPS4

NM_022081.6:p.Q620*

Associated Papers

Updated Analysis of Albinism in Japan: 290 Families With Novel Pathological Variants.

Okamura K et al.

Pigment Cell & Melanoma Research, 2025

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

Zaman Q et al.

Genes, 2023

36672886 (PubMed )
Supplement: genes-14-00145-s001.zip › genes-2104317-supplementary.pdf

Hermansky-Pudlak syndrome: Mutation update.

Huizing M et al.

Human Mutation, 2020

A novel mutation causes Hermansky-Pudlak syndrome type 4 with pulmonary fibrosis in 2 siblings from China.

Wu W et al.

Medicine, 2019

Systematic review of drug effects in humans and models with surfactant-processing disease.

Klay D et al.

European Respiratory Review : an Official Journal of the European Respiratory Society, 2018

Hermansky-Pudlak syndrome type 4 with interstitial pneumonia.

Sakata Y et al.

Respiratory Medicine Case Reports, 2013

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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."