Varaico: Literature-Extracted Genetic Variants

Gene:CITED2
Variant:p.G184S
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CITED2

NM_006079.5:p.G184S

Associated Papers

Screening and evaluation of TBX20 and CITED2 mutations in children with congenital cardiac septal defects: Correlation with cardiac troponin T and caspase-3.

Taha M et al.

Gene, 2023

An update on the molecular diagnosis of congenital heart disease: focus on loss-of-function mutations.

Li YJ et al.

Expert Review of Molecular Diagnostics, 2017

28274167 (PubMed )
Supplement: supplement_1.doc

Genetic basis of human left-right asymmetry disorders.

Deng H et al.

Expert Reviews in Molecular Medicine, 2015

CITED2 mutation and methylation in children with congenital heart disease.

Xu M et al.

Journal of Biomedical Science, 2014

CITED2 mutation links congenital heart defects to dysregulation of the cardiac gene VEGF and PITX2C expression.

Li Q et al.

Biochemical and Biophysical Research Communications, 2012

Functional significance of SRJ domain mutations in CITED2.

Chen CM et al.

Plos One, 2012

[Mutation analysis of Cited2 in patients with congenital heart disease].

Yang XF et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2010

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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."