Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.H193Y
Back to variants list

ABCA4

NM_000350.3:p.H193Y

Associated Papers

An adenine base editor variant expands context compatibility.

Xiao YL et al.

Nature Biotechnology, 2024

Phenotype Heterogeneity and the Association Between Visual Acuity and Outer Retinal Structure in a Cohort of Chinese X-Linked Juvenile Retinoschisis Patients.

Guo Q et al.

Frontiers in Genetics, 2022

Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle.

Thompson DA et al.

Human Molecular Genetics, 2005

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."