Varaico: Literature-Extracted Genetic Variants

Gene:HPS1
Variant:p.G321insFs
Back to variants list

HPS1

NM_000195.5:p.G321insFs

Associated Papers

Hermansky-Pudlak syndrome: Mutation update.

Huizing M et al.

Human Mutation, 2020

High frequency of Hermansky-Pudlak syndrome type 1 (HPS1) among Japanese albinism patients and functional analysis of HPS1 mutant protein.

Ito S et al.

The Journal of Investigative Dermatology, 2005

Heterozygous HPS1 mutations in a case of Hermansky-Pudlak syndrome with giant melanosomes.

Horikawa T et al.

The British Journal of Dermatology, 2000

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."