Varaico: Literature-Extracted Genetic Variants

Gene:HADHB
Variant:p.D372V
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HADHB

NM_000183.3:p.D372V

Associated Papers

Neurological outcome in long-chain hydroxy fatty acid oxidation disorders.

Mütze U et al.

Annals of Clinical and Translational Neurology, 2024

The spectrum of peripheral neuropathy in disorders of the mitochondrial trifunctional protein.

Grünert SC et al.

Journal of Inherited Metabolic Disease, 2021

A Rare Presentation of Cardiomyopathy in Pregnancy.

Donald E et al.

Jacc. Case Reports, 2020

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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."