Varaico: Literature-Extracted Genetic Variants

Gene:HPS1
Variant:p.R131*
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HPS1

NM_000195.5:p.R131*

Associated Papers

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

Implementation of an optimized strategy for genetic testing of the Chinese patients with oculocutaneous albinism.

Wei A et al.

Journal of Dermatological Science, 2011

Mutational data integration in gene-oriented files of the Hermansky-Pudlak Syndrome database.

Li W et al.

Human Mutation, 2006

Hermansky-Pudlak syndrome: a disease of protein trafficking and organelle function.

Wei ML

Pigment Cell Research, 2006

Molecular, ultrastructural and functional characterization of a Spanish family with Hermansky-Pudlak syndrome: role of insC974 in platelet function and clinical relevance.

González-Conejero R et al.

British Journal of Haematology, 2003

Hermansky-Pudlak syndrome type 1: gene organization, novel mutations, and clinical-molecular review of non-Puerto Rican cases.

Hermos CR et al.

Human Mutation, 2002

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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."