Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-5
Variant:p.L171insFs
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NKX2-5

NM_004387.4:p.L171insFs

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

Expanding the electrical phenotype of NKX2-5 mutations: Ventricular tachycardia, atrial fibrillation, and complete heart block within one family.

Jhaveri S et al.

Heartrhythm Case Reports, 2018

Recent advancements in the molecular genetics of left ventricular noncompaction cardiomyopathy.

Dong X et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2017

NKX2-5 mutations in an inbred consanguineous population: genetic and phenotypic diversity.

Abou Hassan OK et al.

Scientific Reports, 2015

25742962 (PubMed )
Supplement: srep08848-s1.docx

A de novo mutation in NKX2.5 associated with atrial septal defects, ventricular noncompaction, syncope and sudden death.

Ouyang P et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2011

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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."