Varaico: Literature-Extracted Genetic Variants

Gene:DST
Variant:p.Y2366insFs
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DST

NM_001723.7:p.Y2366insFs

Associated Papers

Autosomal recessive epidermolysis bullosa simplex due to compound heterozygous mutations in the DST gene: the first Italian case and literature review.

Diociaiuti A et al.

Dermatology Reports, 2026

Epidermolysis Bullosa Simplex With Dystonin Gene Mutation: First Reported Case in Saudi Arabia.

Al Towijry M et al.

Cureus, 2023

Pathogenic DST sequence variants result in either epidermolysis bullosa simplex (EBS) or hereditary sensory and autonomic neuropathy type 6 (HSAN-VI).

Khalesi R et al.

Experimental Dermatology, 2022

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