Varaico: Literature-Extracted Genetic Variants

Gene:USH2A
Variant:p.T779_R781Fs
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USH2A

NM_206933.4:p.T779_R781Fs

Associated Papers

A protein domain-oriented approach to expand the opportunities of therapeutic exon skipping for USH2A-associated retinitis pigmentosa.

Schellens RTW et al.

Molecular Therapy. Nucleic Acids, 2023

Antisense oligonucleotide-based treatment of retinitis pigmentosa caused by USH2A exon 13 mutations.

Dulla K et al.

Molecular Therapy : the Journal of the American Society of Gene Therapy, 2021

Clinical and preclinical therapeutic outcome metrics for USH2A-related disease.

Toms M et al.

Human Molecular Genetics, 2020

Usherin defects lead to early-onset retinal dysfunction in zebrafish.

Dona M et al.

Experimental Eye Research, 2018

Pathogenesis and Treatment of Usher Syndrome Type IIA.

Zaw K et al.

Asia-pacific Journal of Ophthalmology (philadelphia, Pa.), 0

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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."