Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.V27D
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GJB2

NM_004004.6:p.V27D

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

Connexin 26 (GJB2) mutations in keratitis-ichthyosis-deafness syndrome presenting with squamous cell carcinoma.

Sakabe J et al.

The Journal of Dermatology, 2012

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