Varaico: Literature-Extracted Genetic Variants

Gene:TAFAZZIN
Variant:p.R94L
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TAFAZZIN

NM_000116.5:p.R94L

Associated Papers

FGF21 and GDF15 are elevated in Barth Syndrome and are correlated to important clinical measures.

Liu O et al.

Molecular Genetics and Metabolism, 2023

Clinical presentation and natural history of Barth Syndrome: An overview.

Taylor C et al.

Journal of Inherited Metabolic Disease, 2022

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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."