Varaico: Literature-Extracted Genetic Variants

Gene:TAFAZZIN
Variant:p.D75H
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TAFAZZIN

NM_000116.5:p.D75H

Associated Papers

Deficient Cardiolipin Remodeling Alters Muscle Fiber Composition and Neuromuscular Connectivity in Barth Syndrome.

Matias C et al.

Biorxiv : the Preprint Server for Biology, 2025

Granulopoietic Dysregulation in a Patient-Tailored Mouse Model of Barth Syndrome.

Sierra Potchanant EA et al.

Stem Cell Reviews and Reports, 2025

The Loss of Tafazzin Transacetylase Activity Is Sufficient to Drive Testicular Infertility.

Snider PL et al.

Journal of Developmental Biology, 2024

A Barth Syndrome Patient-Derived D75H Point Mutation in TAFAZZIN Drives Progressive Cardiomyopathy in Mice.

Snider PL et al.

International Journal of Molecular Sciences, 2024

Metabolic switch from fatty acid oxidation to glycolysis in knock-in mouse model of Barth syndrome.

Chowdhury A et al.

Embo Molecular Medicine, 2023

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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."