Varaico: Literature-Extracted Genetic Variants

Gene:SOX7
Variant:p.Q104*
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SOX7

NM_031439.4:p.Q104*

Associated Papers

SOX7 deficiency causes ventricular septal defects through its effects on endocardial-to-mesenchymal transition and the expression of Wnt4 and Bmp2.

Hernández-García A et al.

Human Molecular Genetics, 2023

SOX7 loss-of-function variation as a cause of familial congenital heart disease.

Huang RT et al.

American Journal of Translational Research, 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."