Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.T192delFs
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GJB2

NM_004004.6:p.T192delFs

Associated Papers

Intersection of rare pathogenic variants from TCGA in the All of Us Research Program v6.

Bates BA et al.

Hgg Advances, 2025

39799398 (PubMed )
Supplement: mmc2.xlsx › variantCounts

Spectrum of genetic variants in 306 patients with non-syndromic hearing loss from Croatia.

Sansović I et al.

Croatian Medical Journal, 2024

38868966 (PubMed )
Supplement: CroatMedJ_65_s006.pdf

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

Causes of hearing impairment in the Norwegian paediatric cochlear implant program.

Siem G et al.

International Journal of Audiology, 2010

A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort.

Putcha GV et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2007

Evaluation of Cx26/GJB2 in German hearing impaired persons: mutation spectrum and detection of disequilibrium between M34T (c.101T>C) and -493del10.

Zoll B et al.

Human Mutation, 2003

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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."