Varaico: Literature-Extracted Genetic Variants

Gene:ITGB4
Variant:p.C38F
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ITGB4

NM_000213.5:p.C38F

Associated Papers

Compound Heterozygous Mutations with a Novel Variant in Integrin Beta4 Cause Epidermolysis Bullosa with Pyloric Atresia and Urologic Abnormalities.

Yoo DS et al.

Yonsei Medical Journal, 2020

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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."