Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-5
Variant:p.K192E
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NKX2-5

NM_004387.4:p.K192E

Associated Papers

CITED2 mutation and methylation in children with congenital heart disease.

Xu M et al.

Journal of Biomedical Science, 2014

[Mutation analysis of Cited2 in patients with congenital heart disease].

Yang XF et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2010

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

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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."