Varaico: Literature-Extracted Genetic Variants

Gene:HADHA
Variant:p.E510K
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HADHA

NM_000182.5:p.E510K

Associated Papers

Disorders of mitochondrial long-chain fatty acid oxidation and the carnitine shuttle.

Knottnerus SJG et al.

Reviews in Endocrine & Metabolic Disorders, 2018

Mutational analysis in podocin-associated hereditary nephrotic syndrome in Polish patients: founder effect in the Kashubian population.

Lipska BS et al.

Journal of Applied Genetics, 2013

Paternal isodisomy of chromosome 2 as a cause of long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency.

Baskin B et al.

American Journal of Medical Genetics. Part A, 2010

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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."