Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.E110K
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GJB2

NM_004004.6:p.E110K

Associated Papers

Molecular Mechanisms and Clinical Phenotypes of GJB2 Missense Variants.

Mao L et al.

Biology, 2023

37106706 (PubMed )
Supplement: biology-12-00505-s001.zip › biology-2074814-supplementary.xlsx › Table_S1

An update of common autosomal recessive non-syndromic hearing loss genes in Iranian population.

Ghasemnejad T et al.

International Journal of Pediatric Otorhinolaryngology, 2017

The c.242G>A mutation in LRTOMT gene is responsible for a high prevalence of deafness in the Moroccan population.

Charif M et al.

Molecular Biology Reports, 2012

Impact of consanguineous marriages in GJB2-related hearing loss in the Iranian population: a report of a novel variant.

Mahdieh N et al.

Genetic Testing and Molecular Biomarkers, 0

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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."