Varaico: Literature-Extracted Genetic Variants

Gene:DES
Variant:p.S82C
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DES

NM_001927.4:p.S82C

Associated Papers

Hemidesmosomal variants of epidermolysis bullosa. Mutations in the alpha6beta4 integrin and the 180-kD bullous pemphigoid antigen/type XVII collagen genes.

Pulkkinen L et al.

Experimental Dermatology, 0

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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."