Varaico: Literature-Extracted Genetic Variants

Gene:USH2A
Variant:p.G764delFs
Back to variants list

USH2A

NM_206933.4:p.G764delFs

Associated Papers

Comparison of CRISPR-Cas13b RNA base editing approaches for USH2A-associated inherited retinal degeneration.

Fry LE et al.

Communications Biology, 2025

A Knockin Model with the Mouse Equivalent to the c.2299delG Mutation in Usherin Exhibits Early-Onset Hearing Loss and Progressive Retinal Degeneration.

Tebbe L et al.

Advances in Experimental Medicine and Biology, 2025

Expression of the human usherin c.2299delG mutation leads to early-onset auditory loss and stereocilia disorganization.

Crane R et al.

Communications Biology, 2023

The usherin mutation c.2299delG leads to its mislocalization and disrupts interactions with whirlin and VLGR1.

Tebbe L et al.

Nature Communications, 2023

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."