Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.I215delFs
Back to variants list

GJB2

NM_004004.6:p.I215delFs

Associated Papers

Spectrum of DNA Variants Underlying Deafness in an Ecuadorian Cohort.

Reinoso-Castillo A et al.

Biochemical Genetics, 2026

Comparison of clinical performance of MeltPro hearing loss assay and targeted next generation sequencing assay for genetic screening of hearing loss.

Wang X et al.

Scientific Reports, 2025

40595116 (PubMed )
Supplement: 41598_2025_6744_MOESM1_ESM.xls › Supplementary_Table_S2

Simulation-predicted and -explained inheritance model of pathogenicity confirmed by transgenic mice models.

Tsai CY et al.

Computational and Structural Biotechnology Journal, 2023

38074473 (PubMed )
Supplement: mmc1.docx

Genetic etiology of non-syndromic hearing loss in Latin America.

Lezirovitz K et al.

Human Genetics, 2022

Identification of Main Genetic Causes Responsible for Non-Syndromic Hearing Loss in a Peruvian Population.

Figueroa-Ildefonso E et al.

Genes, 2019

Etiologic diagnosis of nonsyndromic genetic hearing loss in adult vs pediatric populations.

King PJ et al.

Otolaryngology--head and Neck Surgery : Official Journal of American Academy of Otolaryngology-head and Neck Surgery, 2012

Phenotype/genotype correlations in a DFNB1 cohort with ethnical diversity.

Angeli SI

The Laryngoscope, 2008

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."