Varaico: Literature-Extracted Genetic Variants

Gene:HPS1
Variant:p.C3*
Back to variants list

HPS1

NM_000195.5:p.C3*

Associated Papers

Di-Genic Inheritance in Genodermatoses: Insights from Two Consanguineous Cases in a Reference Lebanese Center within the Middle East and North Africa (MENA) Region.

Kadhi A et al.

Dermatology Practical & Conceptual, 2025

Ocular findings and a comparative study of hair, skin and iris color in Chinese patients with albinism.

Arcot Sadagopan K et al.

Ophthalmic Genetics, 2023

Genetic analysis and prenatal diagnosis of 20 Chinese families with oculocutaneous albinism.

Xu C et al.

Journal of Clinical Laboratory Analysis, 2021

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."