Varaico: Literature-Extracted Genetic Variants

Gene:HADHA
Variant:p.E242G
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HADHA

NM_000182.5:p.E242G

Associated Papers

Observations regarding retinopathy in mitochondrial trifunctional protein deficiencies.

Fletcher AL et al.

Molecular Genetics and Metabolism, 2012

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

Spiekerkoetter U et al.

Human Mutation, 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."