Varaico: Literature-Extracted Genetic Variants

Gene:DSG1
Variant:p.T520_S521delFs
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DSG1

NM_001942.4:p.T520_S521delFs

Associated Papers

Novel nonsense variants in SLURP1 and DSG1 cause palmoplantar keratoderma in Pakistani families.

Akbar A et al.

Bmc Medical Genetics, 2019

31443639 (PubMed )
Supplement: 12881_2019_872_MOESM1_ESM.docx

Mutations in desmoglein 1 cause diverse inherited palmoplantar keratoderma phenotypes: implications for genetic screening.

Lovgren ML et al.

The British Journal of Dermatology, 2017

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