Varaico: Literature-Extracted Genetic Variants

Gene:DST
Variant:p.L2477fs
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DST

NM_001374736.1:p.L2477fs

Associated Papers

Two missense mutations in Dystonin lead to epidermolysis bullosa simplex complicated with lepromatous leprosy: a case report.

Al-Quran L et al.

Ame Case Reports, 2025

Epidermolysis bullosa simplex due to bi-allelic DST mutations: Case series and review of the literature.

Ganani D et al.

Pediatric Dermatology, 2021

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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."