Varaico: Literature-Extracted Genetic Variants

Gene:USH2A
Variant:p.L2776_S2777delFs
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USH2A

NM_206933.4:p.L2776_S2777delFs

Associated Papers

Current approaches for Usher syndrome disease models and developing therapies.

Leith FK et al.

Frontiers in Cell and Developmental Biology, 2025

Generation and characterization of a human iPSC line (JUFMDOi007-A) from a patient with Usher syndrome due to mutation in USH2A.

Ukaji T et al.

Stem Cell Research, 2023

The genetic etiology of hearing loss in Japan revealed by the social health insurance-based genetic testing of 10K patients.

Usami SI et al.

Human Genetics, 2022

34599366 (PubMed )
Supplement: 439_2021_2371_MOESM2_ESM.xlsx › SuppleTable2_20210811_final
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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."