Varaico: Literature-Extracted Genetic Variants

Gene:TAFAZZIN
Variant:p.C118R
Back to variants list

TAFAZZIN

NM_000116.5:p.C118R

Associated Papers

Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.

Umerenkov D et al.

Life Science Alliance, 2023

37164635 (PubMed )
Supplement: LSA-2023-01962_TableS6.xlsx › Predicted_OMIM

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

Structural and functional analyses of Barth syndrome-causing mutations and alternative splicing in the tafazzin acyltransferase domain.

Hijikata A et al.

Meta Gene, 2015

Identification of a novel TPM1 mutation in a family with left ventricular noncompaction and sudden death.

Chang B et al.

Molecular Genetics and Metabolism, 2011

Cardiogenetics, neurogenetics, and pathogenetics of left ventricular hypertrabeculation/noncompaction.

Finsterer J

Pediatric Cardiology, 2009

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

Infantile dilated X-linked cardiomyopathy, G4.5 mutations, altered lipids, and ultrastructural malformations of mitochondria in heart, liver, and skeletal muscle.

Bissler JJ et al.

Laboratory Investigation; a Journal of Technical Methods and Pathology, 2002

Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome.

Ichida F et al.

Circulation, 2001

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."