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September 10, 2025HereditasOpen Access

Structural and functional assessment of TBX20 gene variants in pediatric ventricular septal defect

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Authors

ZQZhenzhen QinCLCaixia LiuJWJie Wang

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Overview

Genetic analysis reveals tbx20 variants affect mRNA expression and function in pediatric VSD patients, suggesting significant implications.

Key Points

  • TBX20 gene variants contribute to pediatric ventricular septal defect by affecting gene expression and function.
  • Two specific variants were identified, with one significantly reducing TBX20 activity while another increased it.
  • Structural modeling indicated a destabilizing effect of the missense variant on TBX20 protein conformation.
  • These findings may guide future clinical approaches to managing ventricular septal defect in children.

Cite This Study

Qin et al. (2025) studied this question.

synapsesocial.com/papers/68c240deb210217d6479d358https://doi.org/10.1186/s41065-025-00513-5
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