Varaico: Literature-Extracted Genetic Variants

Gene:COL18A1
Variant:p.R185*
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COL18A1

NM_001379500.1:p.R185*

Associated Papers

Functional genotype classification groups distinguish disease severity in recessive dystrophic epidermolysis bullosa.

Pathmarajah P et al.

The British Journal of Dermatology, 2025

Epidemiology of inherited epidermolysis bullosa in Romania and genotype-phenotype correlations in patients with dystrophic epidermolysis bullosa.

Dănescu S et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2015

Dystrophic epidermolysis bullosa: two case reports.

Dănescu S et al.

Romanian Journal of Morphology and Embryology = Revue Roumaine De Morphologie Et Embryologie, 2011

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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."