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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DSG1

Variant:p.G557R

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DSG1

NM_001942.4:p.G557R

hg38:chr18:31340007 G>C

Associated Papers

Differential Pathomechanisms of Desmoglein 1 Transmembrane Domain Mutations in Skin Disease.

Zimmer SE et al.

The Journal of Investigative Dermatology, 2022

34352264 (PubMed )

Messages from Mutant Desmosomes.

Magin TM et al.

The Journal of Investigative Dermatology, 2022

34799122 (PubMed )

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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."