Varaico: Literature-Extracted Genetic Variants

Gene:USH2A
Variant:p.V742L
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USH2A

NM_206933.4:p.V742L

Associated Papers

Spectrum of DNA variants for patients with hearing loss in 4 language families of 15 ethnicities from Southwestern China.

Li J et al.

Heliyon, 2024

39640791 (PubMed )
Supplement: mmc1.xlsx › Unsolved__patients

Novel biallelic USH2A variants in a patient with usher syndrome type IIA- a case report.

Young SL et al.

Bmc Ophthalmology, 2022

35346118 (PubMed )
Supplement: 12886_2022_2353_MOESM2_ESM.xlsx › ClinVar_results_with_predictors

A novel statistical method for interpreting the pathogenicity of rare variants.

Wang J et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

32884132 (PubMed )
Supplement: NIHMS1630822-supplement-Supplementary_Tables.xlsx › S8_USH2A_variants
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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."