Varaico: Literature-Extracted Genetic Variants

Gene:HPS1
Variant:p.H497fs
Back to variants list

HPS1

NM_000195.5:p.H497fs

Associated Papers

Acute Angle Closure Glaucoma Attack in a Patient With Hermansky-Pudlak Syndrome: A Case Report.

Vázquez-Folch SJ et al.

Cureus, 2024

Inherited platelet diseases with normal platelet count: phenotypes, genotypes and diagnostic strategy.

Nurden P et al.

Haematologica, 2021

Hermansky-Pudlak syndrome: Mutation update.

Huizing M et al.

Human Mutation, 2020

Assessing risk for Mendelian disorders in a Bronx population.

diSibio G et al.

Molecular Genetics & Genomic Medicine, 2017

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."