Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.A88G
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GJB2

NM_004004.6:p.A88G

Associated Papers

Functional Consequences of Pathogenic Variants of the GJB2 Gene (Cx26) Localized in Different Cx26 Domains.

Posukh OL et al.

Biomolecules, 2023

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

Bioinformatic Analysis of GJB2 Gene Missense Mutations.

Yilmaz A

Cell Biochemistry and Biophysics, 2015

NADf chip, a two-color microarray for simultaneous screening of multigene mutations associated with hearing impairment in North African Mediterranean countries.

Chakchouk I et al.

The Journal of Molecular Diagnostics : Jmd, 2015

Severe form of keratitis-ichthyosis-deafness (KID) syndrome associated with septic complications.

Haruna K et al.

The Journal of Dermatology, 2010

A novel missense mutation in the Connexin 26 gene associated with autosomal recessive nonsyndromic sensorineural hearing loss in a consanguineous Tunisian family.

Alemanno MS et al.

International Journal of Pediatric Otorhinolaryngology, 2009

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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."