Varaico: Literature-Extracted Genetic Variants

Gene:DSG4
Variant:p.E228V
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DSG4

NM_177986.5:p.E228V

Associated Papers

Mutations in the desmoglein 4 gene are associated with monilethrix-like congenital hypotrichosis.

Shimomura Y et al.

The Journal of Investigative Dermatology, 2006

More than one gene involved in monilethrix: intracellular but also extracellular players.

Schweizer J

The Journal of Investigative Dermatology, 2006

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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."