Varaico: Literature-Extracted Genetic Variants

Gene:GJB6
Variant:p.G12D
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GJB6

NM_001110219.3:p.G12D

Associated Papers

The genetic and molecular basis of a connexin-linked skin disease.

Lucaciu SA et al.

The Biochemical Journal, 2024

Calcium Regulation of Connexin Hemichannels.

Bayraktar E et al.

International Journal of Molecular Sciences, 2024

[High-throughout detection and analysis of drug-resistance gene mutation for 2465 cases with chronic hepatitis B in Shenzhen].

Chen YY et al.

Zhonghua Shi Yan He Lin Chuang Bing Du Xue Za Zhi = Zhonghua Shiyan He Linchuang Bingduxue Zazhi = Chinese Journal of Experimental and Clinical Virology, 2013

Structural basis for the selective permeability of channels made of communicating junction proteins.

Ek-Vitorin JF et al.

Biochimica Et Biophysica Acta, 2013

GJB2 Gene Mutations in Syndromic Skin Diseases with Sensorineural Hearing Loss.

Iossa S et al.

Current Genomics, 2011

Do cell junction protein mutations cause an airway phenotype in mice or humans?

Chang EH et al.

American Journal of Respiratory Cell and Molecular Biology, 2011

Clinical and genetic heterogeneity of erythrokeratoderma variabilis.

Common JE et al.

The Journal of Investigative Dermatology, 2005

Divergent effects of two sequence variants of GJB3 (G12D and R32W) on the function of connexin 31 in vitro.

Rouan F et al.

Experimental Dermatology, 2003

Human connexin disorders of the skin.

Richard G

Cell Communication & Adhesion, 2001

Connexins: a connection with the skin.

Richard G

Experimental Dermatology, 2000

Connexin disorders of the skin.

Richard G

Clinics in Dermatology, 0

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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