Varaico: Literature-Extracted Genetic Variants

Gene:TAFAZZIN
Variant:p.L82P
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TAFAZZIN

NM_000116.5:p.L82P

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

Genetic Spectrum of Left Ventricular Non-Compaction in Paediatric Patients.

Vershinina T et al.

Cardiology, 2020

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

Hijikata A et al.

Meta Gene, 2015

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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."