Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-5
Variant:p.E38delFs
Back to variants list

NKX2-5

NM_004387.4:p.E38delFs

Associated Papers

Sudden Death in Pediatric Patient With Dilated Cardiomyopathy Due to Founder Variant in NKX2-5: Case Report.

Scibetta N et al.

Academic Forensic Pathology, 2024

Systems genetics analysis identifies calcium-signaling defects as novel cause of congenital heart disease.

Izarzugaza JMG et al.

Genome Medicine, 2020

An update on genetic variants of the NKX2-5.

Kolomenski JE et al.

Human Mutation, 2020

Familial Atrial Septal Defect and Sudden Cardiac Death: Identification of a Novel NKX2-5 Mutation and a Review of the Literature.

Ellesøe SG et al.

Congenital Heart Disease, 2016

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."