Varaico: Literature-Extracted Genetic Variants

Gene:HPS1
Variant:p.R385_S386Splc
Back to variants list

HPS1

NM_000195.5:p.R385_S386Splc

Associated Papers

Ophthalmologic Phenotype-Genotype Correlations in Patients With Oculocutaneous Albinism Followed in a Reference Center.

Seguy PH et al.

Investigative Ophthalmology & Visual Science, 2023

37707835 (PubMed )
Supplement: iovs-64-12-26_s001.xlsx › Feuil2
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."