Varaico: Literature-Extracted Genetic Variants

Gene:HPS1
Variant:p.L679_A688delFs
Back to variants list

HPS1

NM_000195.5:p.L679_A688delFs

Associated Papers

Hermansky-Pudlak syndrome: Mutation update.

Huizing M et al.

Human Mutation, 2020

Crohn's-like acute severe colitis associated with Hermansky-Pudlak syndrome: A case report.

Girot P et al.

World Journal of Gastroenterology, 2019

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."