Varaico: Literature-Extracted Genetic Variants

Gene:DSG1
Variant:p.R607_D608Splc
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DSG1

NM_001942.4:p.R607_D608Splc

Associated Papers

First observation of dupilumab efficacy in an infant with SAM (severe dermatitis, multiple allergies and metabolic wasting) syndrome.

Körner RW et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2023

SAM Syndrome Presenting With Pulmonary Stenosis: A Case Report and Literature Review.

Balan BK et al.

Pediatric 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."