Varaico: Literature-Extracted Genetic Variants

Gene:DST
Variant:p.N1823_H1824delFs
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DST

NM_001723.7:p.N1823_H1824delFs

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

Localized autosomal recessive epidermolysis bullosa simplex arising from a novel homozygous frameshift mutation in DST (BPAG1).

Wen D et al.

Clinical and Experimental Dermatology, 2022

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."