Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.N54I
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GJB2

NM_004004.6:p.N54I

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

Crucial motifs and residues in the extracellular loops influence the formation and specificity of connexin docking.

Bai D et al.

Biochimica Et Biophysica Acta. Biomembranes, 2018

Bioinformatic Analysis of GJB2 Gene Missense Mutations.

Yilmaz A

Cell Biochemistry and Biophysics, 2015

Understanding of the molecular evolution of deafness-associated pathogenic mutations of connexin 26.

Han XH et al.

Genetica, 2014

Extracellular domains play different roles in gap junction formation and docking compatibility.

Bai D et al.

The Biochemical Journal, 2014

Genetic Screening of GJB2 and SLC26A4 in Korean Cochlear Implantees: Experience of Soree Ear Clinic.

Shin JW et al.

Clinical and Experimental Otorhinolaryngology, 2012

Mutation analysis of the Cx26, Cx30, and Cx31 genes in autosomal recessive nonsyndromic hearing impairment.

Gürtler N et al.

Acta Oto-laryngologica, 2008

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