Varaico: Literature-Extracted Genetic Variants

Gene:OTOF
Variant:p.L1967_K1968del1
Back to variants list

OTOF

NM_194248.3:p.L1967_K1968del1

Associated Papers

Structure and function of otoferlin, a synaptic protein of sensory hair cells essential for hearing.

Chen H et al.

Science Advances, 2025

41091875 (PubMed )
Supplement: sciadv.ady8532_sm.pdf

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
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."