Varaico: Literature-Extracted Genetic Variants

Gene:DST
Variant:p.E5133fs
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DST

NM_001144769.5:p.E5133fs

Associated Papers

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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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."