Varaico: Literature-Extracted Genetic Variants

Gene:HADHA
Variant:p.H498R
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HADHA

NM_000182.5:p.H498R

Associated Papers

Early-Onset Sensorimotor Axonal Neuropathy as Sole Manifestation of HADHA-Related Disorder/ Mitochondrial Trifunctional Protein Defect.

Balletto G et al.

Journal of Child Neurology, 2026

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

Diagnosis, Treatment, and Clinical Outcome of Patients with Mitochondrial Trifunctional Protein/Long-Chain 3-Hydroxy Acyl-CoA Dehydrogenase Deficiency.

De Biase I et al.

Jimd Reports, 2017

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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."