Varaico: Literature-Extracted Genetic Variants

Gene:HADHA
Variant:p.L229L
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HADHA

NM_000182.5:p.L229L

Associated Papers

Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to beta-subunit mutations.

Spiekerkoetter U et al.

Human Mutation, 2003

Accumulation of 3-hydroxy-fatty acids in the culture medium of long-chain L-3-hydroxyacyl CoA dehydrogenase (LCHAD) and mitochondrial trifunctional protein-deficient skin fibroblasts: implications for medium chain triglyceride dietary treatment of LCHAD deficiency.

Jones PM et al.

Pediatric Research, 2003

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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."