Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-5
Variant:p.A61V
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NKX2-5

NM_004387.4:p.A61V

Associated Papers

The Genetic Landscape of Patent Foramen Ovale: A Systematic Review.

Paolucci M et al.

Genes, 2021

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

Belvís R et al.

Clinical Neurology and Neurosurgery, 2009

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."