Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.E101del1
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GJB2

NM_004004.6:p.E101del1

Associated Papers

Mutation Spectrum of GJB2 in Taiwanese Patients with Sensorineural Hearing Loss: Prevalence, Pathogenicity, and Clinical Implications.

Lin YF et al.

International Journal of Molecular Sciences, 2025

Genetics of hearing loss in the Arab population of Northern Israel.

Danial-Farran N et al.

European Journal of Human Genetics : Ejhg, 2018

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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."