Varaico: Literature-Extracted Genetic Variants

Gene:DSG3
Variant:p.S759insFs
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DSG3

NM_001944.3:p.S759insFs

Associated Papers

Loss of cell adhesion in Dsg3bal-Pas mice with homozygous deletion mutation (2079del14) in the desmoglein 3 gene.

Pulkkinen L et al.

The Journal of Investigative Dermatology, 2002

Targeted disruption of the pemphigus vulgaris antigen (desmoglein 3) gene in mice causes loss of keratinocyte cell adhesion with a phenotype similar to pemphigus vulgaris.

Koch PJ et al.

The Journal of Cell Biology, 1997

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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."