SNP information rs28936670

Research and publications:

  11714   Analysis of body height in 829 patients with different forms of testicular pathology.

  10587520   Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways.

  10903346   Loss of function and inhibitory effects of human CSX/NKX2.5 homeoprotein mutations associated with congenital heart disease.

  11428001   Atrial form and function: lessons from human molecular genetics.

  11714651   NKX2.5 mutations in patients with tetralogy of fallot.

  12112663   Progressive AV-block and anomalous venous return among cardiac anomalies associated with two novel missense mutations in the CSX/NKX2-5 gene.

  12414819   Two novel frameshift mutations in NKX2.5 result in novel features including visceral inversus and sinus venosus type ASD.

  14607454   NKX2.5 mutations in patients with congenital heart disease.

  15810002   Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect.

  16418214   Missense mutation in the transcription factor NKX2-5: a novel molecular event in the pathogenesis of thyroid dysgenesis.

  17891434   The effect of p.Arg25Cys alteration in NKX2-5 on conotruncal heart anomalies: mutation or polymorphism?

  18414213   ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007.

  19073351   NKX2.5 mutations in patients with non-syndromic congenital heart disease.

  19464101   Mutations in the NKX2-5 gene in patients with stroke and patent foramen ovale.

  19533775   Molecular analysis of PRKAG2, LAMP2, and NKX2-5 genes in a cohort of 125 patients with accessory atrioventricular connection.

  19948535   Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot.

  20456451   Mutational spectrum in the cardiac transcription factor gene NKX2.5 (CSX) associated with congenital heart disease.

  20807224   New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle.

  24033266   A systematic approach to assessing the clinical significance of genetic variants.

  25333069   Disease variants in genomes of 44 centenarians.

  25741868   Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

  27152669   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.

  30834692   Association of NKX2-5, GATA4, and TBX5 polymorphisms with congenital heart disease in Egyptian children.