Varaico: Literature-Extracted Genetic Variants

Gene:ITGB1
Variant:p.Q425P
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ITGB1

NM_002211.4:p.Q425P

Associated Papers

Pyloric atresia-junctional epidermolysis bullosa syndrome showing novel 594insC/Q425P mutations in integrin beta4 gene (ITGB4).

Masunaga T et al.

Experimental Dermatology, 2004

Pyloric atresia-junctional epidermolysis bullosa syndrome showing novel c.4505-4508insACTC mutations in integrin b4 gene (ITGB4).

Mutlu M et al.

The Turkish Journal of Pediatrics, 0

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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."