Varaico: Literature-Extracted Genetic Variants

Gene:ITGB4
Variant:p.A1227D
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ITGB4

NM_000213.5:p.A1227D

Associated Papers

Autosomal recessive inheritance of a novel missense mutation of ITGB4 for Epidermolysis-Bullosa pyloric-atresia: a case report.

Paine SK et al.

Molecular Genetics and Genomics : Mgg, 2022

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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."