Varaico: Literature-Extracted Genetic Variants

Gene:HPS1
Variant:p.E666K
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HPS1

NM_000195.5:p.E666K

Associated Papers

Cryo-EM structure of the BLOC-3 complex provides insights into the pathogenesis of Hermansky-Pudlak syndrome.

Yong X et al.

Nature Communications, 2025

40140412 (PubMed )
Supplement: 41467_2025_58235_MOESM1_ESM.pdf

The Association Between Lysosomal Storage Disorder Genes and Parkinson's Disease: A Large Cohort Study in Chinese Mainland Population.

Zhao YW et al.

Frontiers in Aging Neuroscience, 2021

34867278 (PubMed )
Supplement: Data_Sheet_1.PDF

Hermansky-Pudlak syndrome: Mutation update.

Huizing M et al.

Human Mutation, 2020

Extracorporeal Membrane Oxygenation Bridge to Lung Transplantation in a Patient with Hermansky-Pudlak Syndrome and Progressive Pulmonary Fibrosis.

Sim W et al.

Acute and Critical Care, 2019

A divalent interaction between HPS1 and HPS4 is required for the formation of the biogenesis of lysosome-related organelle complex-3 (BLOC-3).

Carmona-Rivera C et al.

Biochimica Et Biophysica Acta, 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."