Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-5
Variant:p.R225S
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NKX2-5

NM_004387.4:p.R225S

Associated Papers

Computational profiling of hiPSC-derived heart organoids reveals chamber defects associated with NKX2-5 deficiency.

Feng W et al.

Communications Biology, 2022

Genetics of Congenital Heart Defects: The NKX2-5 Gene, a Key Player.

Chung IM et al.

Genes, 2016

Mutations of TFAP2B in congenital heart disease patients in Mysore, South India.

Lingaiah K et al.

The Indian Journal of Medical Research, 2011

NKX2.5 mutations in patients with congenital heart disease.

McElhinney DB et al.

Journal of the American College of Cardiology, 2003

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

Watanabe Y et al.

Journal of Medical Genetics, 2002

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

Benson DW et al.

The Journal of Clinical Investigation, 1999

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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."