Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.F69delFs
Back to variants list

GJB2

NM_004004.6:p.F69delFs

Associated Papers

The natural history and genotype-phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysis.

Colbert BM et al.

Human Genetics, 2024

38691166 (PubMed )
Supplement: 439_2024_2648_MOESM4_ESM.xlsx › eTable_3_Excluded

Spectrum of Genes for Non-GJB2-Related Non-Syndromic Hearing Loss in the Russian Population Revealed by a Targeted Deafness Gene Panel.

Shatokhina O et al.

International Journal of Molecular Sciences, 2022

36555390 (PubMed )
Supplement: ijms-23-15748-s001.zip › ijms-2036179_suppl._tableS1.pdf

Outcomes of Gene Panel Testing for Sensorineural Hearing Loss in a Diverse Patient Cohort.

Liao EN et al.

Jama Network Open, 2022

36166228 (PubMed )
Supplement: jamanetwopen-e2233441-s001.pdf

Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan.

Ahmed ZM et al.

Bmc Medical Genetics, 2004

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."