Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-5
Variant:p.P283Q
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NKX2-5

NM_004387.4:p.P283Q

Associated Papers

Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.

Vashisht S et al.

Bmc Genomics, 2025

39838281 (PubMed )
Supplement: 12864_2025_11232_MOESM4_ESM.xlsx › ClinVar_CHD-SNPs_uniq

Genetic Insights into Congenital Cardiac Septal Defects-A Narrative Review.

Cervantes-Salazar JL et al.

Biology, 2024

Human Genetics of Ventricular Septal Defect.

Perrot A et al.

Advances in Experimental Medicine and Biology, 2024

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

Gene panel for Mendelian strokes.

Fang F et al.

Stroke and Vascular Neurology, 2020

32341005 (PubMed )
Supplement: svn-2020-000352supp003.pdf

An update on genetic variants of the NKX2-5.

Kolomenski JE et al.

Human Mutation, 2020

Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.

Mazzarotto F et al.

Circulation, 2020

31983221 (PubMed )
Supplement: cir-141-387-s002.xlsx › Table_S3

The GenomeAsia 100K Project enables genetic discoveries across Asia.

Unknown Author

Nature, 2019

31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4b_-_Disease_Var

Chromosomal microarray and whole exome sequencing identify genetic causes of congenital hypothyroidism with extra-thyroidal congenital malformations.

Fu C et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2019

A comprehensive in silico analysis, distribution and frequency of human Nkx2-5 mutations; A critical gene in congenital heart disease.

Kalayinia S et al.

Journal of Cardiovascular and Thoracic Research, 2019

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

[Association of single nucleotide polymorphisms of transcription factors with congenital heart diseases in the Chinese population: a Meta analysis].

Chen LT et al.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2018

A Comprehensive In Silico Analysis on the Structural and Functional Impact of SNPs in the Congenital Heart Defects Associated with NKX2-5 Gene-A Molecular Dynamic Simulation Approach.

Abdul Samad F et al.

Plos One, 2016

NKX2-5 mutations in an inbred consanguineous population: genetic and phenotypic diversity.

Abou Hassan OK et al.

Scientific Reports, 2015

25742962 (PubMed )
Supplement: srep08848-s1.docx

Mutations of the GATA4 and NKX2.5 genes in Chinese pediatric patients with non-familial congenital heart disease.

Peng T et al.

Genetica, 2010

[Novel GATA4 mutations identified in patients with congenital heart disease].

Wang J et al.

Zhonghua Yi Xue Za Zhi, 2010

Analyses of GATA4, NKX2.5, and TFAP2B genes in subjects from southern China with sporadic congenital heart disease.

Xiong F et al.

Cardiovascular Pathology : the Official Journal of the Society for Cardiovascular Pathology, 0

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