Varaico: Literature-Extracted Genetic Variants

Gene:TAFAZZIN
Variant:p.Y51*
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TAFAZZIN

NM_000116.5:p.Y51*

Associated Papers

Systematic Review of Genotype-Phenotype Correlations in Noncompaction Cardiomyopathy.

van Waning JI et al.

Journal of the American Heart Association, 2019

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."