Varaico: Literature-Extracted Genetic Variants

Gene:TAFAZZIN
Variant:p.A259_V260Splc
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TAFAZZIN

NM_000116.5:p.A259_V260Splc

Associated Papers

Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.

Lin Y et al.

Orphanet Journal of Rare Diseases, 2021

Systematic Review of Genotype-Phenotype Correlations in Noncompaction Cardiomyopathy.

van Waning JI et al.

Journal of the American Heart Association, 2019

Genetic heterogeneity of left-ventricular noncompaction cardiomyopathy.

Moric-Janiszewska E et al.

Clinical Cardiology, 2008

Clinical presentation and genetic analysis of a five generation Chinese family with isolated left ventricular noncompaction.

Xia S et al.

Internal Medicine (tokyo, Japan), 2008

Noncompaction of the left ventricle: primary cardiomyopathy with an elusive genetic etiology.

Zaragoza MV et al.

Current Opinion in Pediatrics, 2007

Isolated ventricular non-compaction: clinical study and genetic review.

Markiewicz-Loskot G et al.

Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology, 2006

Neuromuscular implications in left ventricular hypertrabeculation/noncompaction.

Finsterer J et al.

International Journal of Cardiology, 2006

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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."