Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.T86A
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GJB2

NM_004004.6:p.T86A

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

Mutation spectrum and hotspots of the common deafness genes in 314 patients with nonsyndromic hearing loss in Heze area, China.

Zhang M et al.

Acta Oto-laryngologica, 2019

GJB2, SLC26A4, and mitochondrial DNA12S rRNA hot-spots in 156 subjects with non-syndromic hearing loss in Tengzhou, China.

Ma Y et al.

Acta Oto-laryngologica, 2016

Polymorphism of the 86th amino acid in CX26 protein and hereditary deafness.

Shi X et al.

Journal of Otology, 2016

A rapid method for simultaneous multi-gene mutation screening in children with nonsyndromic hearing loss.

Du W et al.

Genomics, 2014

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