Varaico: Literature-Extracted Genetic Variants

Gene:HPS1
Variant:p.E133*
Back to variants list

HPS1

NM_000195.5:p.E133*

Associated Papers

Masks of Albinism: Clinical Spectrum of Hermansky-Pudlak Syndrome.

Bobreshova AM et al.

International Journal of Molecular Sciences, 2024

Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.

Wei J et al.

Plos Biology, 2024

38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar

Hermansky-Pudlak syndrome: Mutation update.

Huizing M et al.

Human Mutation, 2020

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."