Varaico: Literature-Extracted Genetic Variants

Gene:DSG4
Variant:p.K72_I73Splc
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DSG4

NM_177986.5:p.K72_I73Splc

Associated Papers

A case of monilethrix caused by novel compound heterozygous mutations in the desmoglein 4 (DSG4) gene.

Farooq M et al.

The British Journal of Dermatology, 2011

Mutations in the desmoglein 4 gene underlie localized autosomal recessive hypotrichosis with monilethrix hairs and congenital scalp erosions.

Schaffer JV et al.

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."