Varaico: Literature-Extracted Genetic Variants

Gene:TAFAZZIN
Variant:p.L210R
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TAFAZZIN

NM_000116.5:p.L210R

Associated Papers

Identification of novel mitochondrial localization signals in human Tafazzin, the cause of the inherited cardiomyopathic disorder Barth syndrome.

Dinca AA et al.

Journal of Molecular and Cellular Cardiology, 2018

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

Hijikata A et al.

Meta Gene, 2015

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

Genetic analysis of the G4.5 gene in families with suspected Barth syndrome.

Cantlay AM et al.

The Journal of Pediatrics, 1999

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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."