Varaico: Literature-Extracted Genetic Variants

Gene:USH2A
Variant:p.H3287_G3291delFs
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USH2A

NM_206933.4:p.H3287_G3291delFs

Associated Papers

Prevalence of Molecular Diagnoses for Usher Syndrome and the Need for Coordinated Care.

Colbert BM et al.

The Laryngoscope, 2025

39560289 (PubMed )
Supplement: LARY-135-1777-s002.pdf

Next-generation sequencing--based genetic testing and phenotype correlation in retinitis pigmentosa patients from India.

Sen P et al.

Indian Journal of Ophthalmology, 2023

Mutation spectrum of non-syndromic hearing loss in the UAE, a retrospective cohort study and literature review.

Elsayed O et al.

Molecular Genetics & Genomic Medicine, 2022

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

Toms M et al.

Human Molecular Genetics, 2020

31998945 (PubMed )
Supplement: toms_et_al_supplementary_material_ddaa004.pdf
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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."