Varaico: Literature-Extracted Genetic Variants

Gene:HPS1
Variant:p.L670P
Back to variants list

HPS1

NM_000195.5:p.L670P

Associated Papers

Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families.

Khan J et al.

Bmc Ophthalmology, 2024

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."