Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.Y136insFs
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GJB2

NM_004004.6:p.Y136insFs

Associated Papers

Cochlear Implantation Outcomes in Genotyped Subjects with Sensorineural Hearing Loss.

Fehrmann MLA et al.

Journal of the Association for Research in Otolaryngology : Jaro, 2025

Systematic review and meta-analysis of pathogenic GJB2 variants in the Asian population.

Ozgur Z et al.

International Journal of Pediatric Otorhinolaryngology, 2025

Spectrum of GJB2 gene variants in Indian children with non-syndromic hearing loss.

Singh PK et al.

The Indian Journal of Medical Research, 2018

Vestibular dysfunction in DFNB1 deafness.

Dodson KM et al.

American Journal of Medical Genetics. Part A, 2011

Functional consequences of novel connexin 26 mutations associated with hereditary hearing loss.

Mani RS et al.

European Journal of Human Genetics : Ejhg, 2009

Temporal bone imaging in GJB2 deafness.

Propst EJ et al.

The Laryngoscope, 2006

Ethnicity and mutations in GJB2 (connexin 26) and GJB6 (connexin 30) in a multi-cultural Canadian paediatric Cochlear Implant Program.

Propst EJ et al.

International Journal of Pediatric Otorhinolaryngology, 2006

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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."