Varaico: Literature-Extracted Genetic Variants

Gene:OTOF
Variant:p.K1992R
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OTOF

NM_194248.3:p.K1992R

Associated Papers

Unraveling the complex genetic landscape of OTOF-related hearing loss: a deep dive into cryptic variants and haplotype phasing.

Lin PH et al.

Molecular Medicine (cambridge, Mass.), 2025

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

Revisiting Genetic Epidemiology with a Refined Targeted Gene Panel for Hereditary Hearing Impairment in the Taiwanese Population.

Lee YH et al.

Genes, 2023

37107638 (PubMed )
Supplement: genes-14-00880-s001.zip › genes-2290782-supplementary.pdf

Familial Temperature-Sensitive Auditory Neuropathy: Distinctive Clinical Courses Caused by Variants of the OTOF Gene.

Zhu YM et al.

Frontiers in Cell and Developmental Biology, 2021

34692690 (PubMed )
Supplement: Table_2.xlsx › Supplementary_Table_7
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