Varaico: Literature-Extracted Genetic Variants

Gene:ITGB4
Variant:p.P200delFs
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ITGB4

NM_000213.5:p.P200delFs

Associated Papers

ITGB4-associated non-Herlitz junctional epidermolysis bullosa: report of two new cases carrying two novel ITGB4 mutations.

Yuen WY et al.

The British Journal of Dermatology, 2013

Differential expression of pyloric atresia in junctional epidermolysis bullosa with ITGB4 mutations suggests that pyloric atresia is due to factors other than the mutations and not predictive of a poor outcome: three novel mutations and a review of the literature.

Dang N et al.

Acta Dermato-venereologica, 2008

Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants.

Varki R et al.

Journal of Medical Genetics, 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."