Varaico: Literature-Extracted Genetic Variants

Gene:OTOF
Variant:p.R813W
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OTOF

NM_194248.3:p.R813W

Associated Papers

Quantitative thresholds for variant enrichment in 13,845 cases: improving pathogenicity classification in genetic hearing loss.

Liu S et al.

Genome Medicine, 2023

38111038 (PubMed )
Supplement: 13073_2023_1271_MOESM1_ESM.xlsx › Table_S3

Detailed clinical features and genotype-phenotype correlation in an OTOF-related hearing loss cohort in Japan.

Iwasa YI et al.

Human Genetics, 2022

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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