Varaico: Literature-Extracted Genetic Variants

Gene:ITGB4
Variant:p.C245Y
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ITGB4

NM_000213.5:p.C245Y

Associated Papers

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."