Varaico: Literature-Extracted Genetic Variants

Gene:SOX7
Variant:p.L14V
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SOX7

NM_031439.4:p.L14V

Associated Papers

Predisposition to atrioventricular septal defects may be caused by SOX7 variants that impair interaction with GATA4.

Li B et al.

Molecular Genetics and Genomics : Mgg, 2022

SOX7 suppresses endothelial-to-mesenchymal transitions by enhancing VE-cadherin expression during outflow tract development.

Jiang X et al.

Clinical Science (london, England : 1979), 2021

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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."