Varaico: Literature-Extracted Genetic Variants

Gene:HADHB
Variant:p.T62A
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HADHB

NM_000183.3:p.T62A

Associated Papers

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

HADHB mutations cause infantile-onset axonal Charcot-Marie-Tooth disease: A report of two cases.

Lu Y et al.

Clinical Neuropathology, 0

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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."