Associated Papers
A curated census of pathogenic and likely pathogenic UTR variants and evaluation of deep learning models for variant effect prediction.
Bohn E et al.
Frontiers in Molecular Biosciences, 2023
Connexins and skin disease: insights into the role of beta connexins in skin homeostasis.
Martin PE et al.
Cell and Tissue Research, 2015
GJB2 Gene Mutations in Syndromic Skin Diseases with Sensorineural Hearing Loss.
Iossa S et al.
Current Genomics, 2011
A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness.
de Zwart-Storm EA et al.
Journal of Medical Genetics, 2008
Peripheral neuropathy in the first 2 years of life: diagnostic evaluation including molecular genetics.
Lacson AG et al.
Advances in Pediatrics, 2001
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