Varaico: Literature-Extracted Genetic Variants

Gene:CITED2
Variant:p.S192G
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CITED2

NM_006079.5:p.S192G

Associated Papers

Identification of novel variants underlying non-syndromic primary ovarian insufficiency using a targeted NGS gene panel.

Veneziano C et al.

Frontiers in Endocrinology, 2025

41458559 (PubMed )
Supplement: Table4.xlsx › sheet1

Sequence variations in GATA4 and CITED2 gene among patients with cardiac septation defects from Xinjiang, China.

Imam R et al.

Cardiology in the Young, 2024

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

Experience with genomic sequencing in pediatric patients with congenital cardiac defects in a large community hospital.

Hauser NS et al.

Molecular Genetics & Genomic Medicine, 2018

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

CITED2 mutation and methylation in children with congenital heart disease.

Xu M et al.

Journal of Biomedical Science, 2014

CITED2 mutations potentially cause idiopathic premature ovarian failure.

Fonseca DJ et al.

Translational Research : the Journal of Laboratory and Clinical Medicine, 2012

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

[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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