Varaico: Literature-Extracted Genetic Variants

Gene:HADHB
Variant:p.S383L
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HADHB

NM_000183.3:p.S383L

Associated Papers

Mitochondrial Genetic Disorders: Cell Signaling and Pharmacological Therapies.

Djouadi F et al.

Cells, 2019

Clinical and genetic characteristics of patients with fatty acid oxidation disorders identified by newborn screening.

Kang E et al.

Bmc Pediatrics, 2018

Mitochondrial trifunctional protein deficiency in human cultured fibroblasts: effects of bezafibrate.

Djouadi F et al.

Journal of Inherited Metabolic Disease, 2016

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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."