Varaico: Literature-Extracted Genetic Variants

Gene:TAFAZZIN
Variant:p.Y51*
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TAFAZZIN

NM_000116.5:p.Y51*

Associated Papers

Late diagnosis of Barth syndrome in a 39-year-old patient with non-compaction cardiomyopathy and neutropenia.

Seitz A et al.

Esc Heart Failure, 2020

Systematic Review of Genotype-Phenotype Correlations in Noncompaction Cardiomyopathy.

van Waning JI et al.

Journal of the American Heart Association, 2019

Barth syndrome cells display widespread remodeling of mitochondrial complexes without affecting metabolic flux distribution.

Chatzispyrou IA et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2018

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

Finsterer J

Pediatric Cardiology, 2009

Acute metabolic decompensation and sudden death in Barth syndrome: report of a family and a literature review.

Yen TY et al.

European Journal of Pediatrics, 2008

X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update.

Barth PG et al.

American Journal of Medical Genetics. Part A, 2004

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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."