Varaico: Literature-Extracted Genetic Variants

Gene:SOX4
Variant:p.E111*
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SOX4

NM_003107.3:p.E111*

Associated Papers

Identification and Functional Characterization of a Novel SOX4 Mutation Predisposing to Coffin-Siris Syndromic Congenital Heart Disease.

Yan Z et al.

Children (basel, Switzerland), 2025

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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."