Varaico: Literature-Extracted Genetic Variants

Gene:HPS6
Variant:p.Y410fs
Back to variants list

HPS6

NM_024747.6:p.Y410fs

Associated Papers

Prospective Study of the Phenotypic and Mutational Spectrum of Ocular Albinism and Oculocutaneous Albinism.

Chan HW et al.

Genes, 2021

Molecular diagnostic challenges for non-retinal developmental eye disorders in the United Kingdom.

Jackson D et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 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."