Varaico: Literature-Extracted Genetic Variants

Gene:HPS1
Variant:p.V394L
Back to variants list

HPS1

NM_000195.5:p.V394L

Associated Papers

MAP1LC3B overexpression protects against Hermansky-Pudlak syndrome type-1-induced defective autophagy in vitro.

Ahuja S et al.

American Journal of Physiology. Lung Cellular and Molecular Physiology, 2016

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."