Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-5
Variant:p.L202L
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NKX2-5

NM_004387.4:p.L202L

Associated Papers

Association between single-nucleotide polymorphisms of NKX2.5 and congenital heart disease in Chinese population: A meta-analysis.

Chen H et al.

Open Life Sciences, 2022

Functional analysis of novel genetic variants of NKX2-5 associated with nonsyndromic congenital heart disease.

Dixit R et al.

American Journal of Medical Genetics. Part A, 2021

Novel Point Mutations in the NKX2.5 Gene in Pediatric Patients with Non-Familial Congenital Heart Disease.

Khatami M et al.

Medicina (kaunas, Lithuania), 2018

Associations of NKX2-5 Genetic Polymorphisms with the Risk of Congenital Heart Disease: A Meta-analysis.

Xie X et al.

Pediatric Cardiology, 2016

Investigation of Somatic NKX2-5 Mutations in Chinese Children with Congenital Heart Disease.

Zheng J et al.

International Journal of Medical Sciences, 2015

Associations between two genetic variants in NKX2-5 and risk of congenital heart disease in Chinese population: a meta-analysis.

Wang Z et al.

Plos One, 2013

Investigation of somatic NKX2-5, GATA4 and HAND1 mutations in patients with tetralogy of Fallot.

Wang J et al.

Pathology, 2011

[Novel NKX2-5 mutations identified in patients with congenital ventricular septal defects].

Liu XY et al.

Zhonghua Yi Xue Za Zhi, 2009

Screening NKX2.5 mutation in a sample of 230 Han Chinese children with congenital heart diseases.

Zhang W et al.

Genetic Testing and Molecular Biomarkers, 2009

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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."