Varaico: Literature-Extracted Genetic Variants

Gene:OTOF
Variant:p.R500*
Back to variants list

OTOF

NM_194248.3:p.R500*

Associated Papers

Targeted sequencing identifies 33 novel mutations in 130 ClinGen curated hearing loss genes among 253 pediatric patients: A retrospective case study.

Zhou Z et al.

Biomedical Reports, 2025

40322553 (PubMed )
Supplement: Supplementary_Data3.xlsx › Table_S2

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

The Many Faces of DFNB9: Relating OTOF Variants to Hearing Impairment.

Vona B et al.

Genes, 2020

33256196 (PubMed )
Supplement: genes-11-01411-s001.xlsx › OTOF_NM_001287489

Cochlear Implantation Outcomes in Patients With OTOF Mutations.

Zheng D et al.

Frontiers in Neuroscience, 2020

32508568 (PubMed )
Supplement: Table_1.xlsx › Genotype

Genetic Epidemiology and Clinical Features of Hereditary Hearing Impairment in the Taiwanese Population.

Wu CC et al.

Genes, 2019

Timing of cochlear implantation in auditory neuropathy patients with OTOF mutations: Our experience with 10 patients.

Wu CC et al.

Clinical Otolaryngology : Official Journal of Ent-uk ; Official Journal of Netherlands Society for Oto-rhino-laryngology & Cervico-facial Surgery, 2018

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."