Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.A88E
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GJB2

NM_004004.6:p.A88E

Associated Papers

Natural history and phenotype-genotype correlations in GJB2-related hearing loss: a systematic and comprehensive review.

Chen L et al.

Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2026

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

Posukh OL et al.

Biomolecules, 2023

A possible role for second-hit postzygotic GJB2 mutation in porokeratotic eccrine ostial and dermal duct nevus.

Chang YH et al.

The Journal of Dermatology, 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

Whole-exome sequencing of de novo genetic variants in a Chinese family with a sporadic case of congenital nonsyndromic hearing loss.

Hu S et al.

F1000research, 2021

Molecular epidemiological analysis of mitochondrial DNA12SrRNA A1555G, GJB2, and SLC26A4 mutations in sporadic outpatients with nonsyndromic sensorineural hearing loss in China.

Ji YB et al.

Acta Oto-laryngologica, 2011

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