Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-5
Variant:p.G296S
Back to variants list

NKX2-5

NM_004387.4:p.G296S

Associated Papers

Understanding the Genetic and Non-genetic Interconnections in the Aetiology of Isolated Congenital Heart Disease: An Updated Review: Part 1.

Maddhesiya J et al.

Current Cardiology Reports, 2024

Decoding Genetics of Congenital Heart Disease Using Patient-Derived Induced Pluripotent Stem Cells (iPSCs).

Lin H et al.

Frontiers in Cell and Developmental Biology, 2021

Disease Model of GATA4 Mutation Reveals Transcription Factor Cooperativity in Human Cardiogenesis.

Ang YS et al.

Cell, 2016

Functionally significant, rare transcription factor variants in tetralogy of Fallot.

Töpf A et al.

Plos One, 2014

Functional dissection of sequence-specific NKX2-5 DNA binding domain mutations associated with human heart septation defects using a yeast-based system.

Inga A et al.

Human Molecular Genetics, 2005

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."