Varaico: Literature-Extracted Genetic Variants

Gene:HADHB
Variant:p.R229Q
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HADHB

NM_000183.3:p.R229Q

Associated Papers

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

Mütze U et al.

Annals of Clinical and Translational Neurology, 2024

The Importance of Offering Exome or Genome Sequencing in Adult Neuromuscular Clinics.

Dratch L et al.

Biology, 2024

Charcot-Marie-Tooth Disease With Episodic Rhabdomyolysis Due to Two Novel Mutations in the β Subunit of Mitochondrial Trifunctional Protein and Effective Response to Modified Diet Therapy.

Guan Y et al.

Frontiers in Neurology, 2021

Impaired Fat Oxidation During Exercise in Long-Chain Acyl-CoA Dehydrogenase Deficiency Patients and Effect of IV-Glucose.

Madsen KL et al.

The Journal of Clinical Endocrinology and Metabolism, 2019

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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."