Varaico: Literature-Extracted Genetic Variants

Gene:USH2A
Variant:p.G614fs
Back to variants list

USH2A

NM_206933.4:p.G614fs

Associated Papers

Systematic empirical evaluation of individual base editing targets: Validating therapeutic targets in USH2A and comparison of methods.

Tachida Y et al.

Molecular Therapy : the Journal of the American Society of Gene Therapy, 2025

A Comparative Evaluation of the Genetic Variant Spectrum in the USH2A Gene in Russian Patients with Isolated and Syndromic Forms of Retinitis Pigmentosa.

Ogorodova N et al.

International Journal of Molecular Sciences, 2024

39596236 (PubMed )
Supplement: ijms-25-12169-s001.zip › suppl_mat.xlsx › Table_S3

Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction.

Reurink J et al.

Hgg Advances, 2023

36785559 (PubMed )
Supplement: mmc1.pdf

Genetic Screening of the Usher Syndrome in Cuba.

Santana EE et al.

Frontiers in Genetics, 2019

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."