Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-5
Variant:p.E21D
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NKX2-5

NM_004387.4:p.E21D

Associated Papers

A novel variant in TBX20 (p.D176N) identified by whole-exome sequencing in combination with a congenital heart disease related gene filter is associated with familial atrial septal defect.

Liu JJ et al.

Journal of Zhejiang University. Science. B, 2014

Molecular genetics of congenital atrial septal defects.

Posch MG et al.

Clinical Research in Cardiology : Official Journal of the German Cardiac Society, 2010

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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."