Varaico: Literature-Extracted Genetic Variants

Gene:TAFAZZIN
Variant:p.R85insFs
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TAFAZZIN

NM_000116.5:p.R85insFs

Associated Papers

Barth Syndrome: TAFAZZIN Gene, Cardiologic Aspects, and Mitochondrial Studies-A Comprehensive Narrative Review.

Sergi CM

Genes, 2025

Systematic Review of Genotype-Phenotype Correlations in Noncompaction Cardiomyopathy.

van Waning JI et al.

Journal of the American Heart Association, 2019

Barth syndrome: mechanisms and management.

Finsterer J

The Application of Clinical Genetics, 2019

BARTH SYNDROME IN MALE AND FEMALE SIBLINGS CAUSED BY A NOVEL MUTATION IN THE TAZ GENE.

Avdjieva-Tzavella DM et al.

Genetic Counseling (geneva, Switzerland), 0

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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."