Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.G12A
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GJB2

NM_004004.6:p.G12A

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

Keratitis-ichthyosis-deafness syndrome: A comprehensive review of cutaneous and systemic manifestations.

Alsabbagh MM

Pediatric Dermatology, 2023

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