Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.L90V
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GJB1

NM_000166.6:p.L90V

Associated Papers

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

Han XH et al.

Genetica, 2014

Syndromic and non-syndromic disease-linked Cx43 mutations.

Laird DW

Febs Letters, 2014

Neurological manifestations of oculodentodigital dysplasia: a Cx43 channelopathy of the central nervous system?

De Bock M et al.

Frontiers in Pharmacology, 2013

Gap junctions in inherited human disorders of the central nervous system.

Abrams CK et al.

Biochimica Et Biophysica Acta, 2012

Connexin-caused genetic diseases and corresponding mouse models.

Dobrowolski R et al.

Antioxidants & Redox Signaling, 2009

Genetic diseases of junctions.

Lai-Cheong JE et al.

The Journal of Investigative Dermatology, 2007

Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients.

Mersiyanova IV et al.

Human Mutation, 2000

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