Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-5
Variant:p.L171fs
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NKX2-5

NM_004387.4:p.L171fs

Associated Papers

A Novel NKX2-5 Variant in a Child with Left Ventricular Noncompaction, Atrial Septal Defect, Atrioventricular Conduction Disorder, and Syncope.

Yamada Y et al.

Journal of Clinical Medicine, 2022

An update on genetic variants of the NKX2-5.

Kolomenski JE et al.

Human Mutation, 2020

Association Between Mutations in the NKX2.5 Homeobox, Atrial Septal Defects, Ventricular Noncompaction and Sudden Cardiac Death.

Palomino Doza J et al.

Revista Espanola De Cardiologia (english Ed.), 2018

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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."