Varaico: Literature-Extracted Genetic Variants

Gene:DSG4
Variant:p.L249insFs
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DSG4

NM_177986.5:p.L249insFs

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

Desmoglein 4 mutations underlie localized autosomal recessive hypotrichosis in humans, mice, and rats.

Bazzi H et al.

The Journal of Investigative Dermatology. Symposium Proceedings, 2005

Desmoglein 4 in hair follicle differentiation and epidermal adhesion: evidence from inherited hypotrichosis and acquired pemphigus vulgaris.

Kljuic A et al.

Cell, 2003

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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."