Varaico: Literature-Extracted Genetic Variants

Gene:ACADVL
Variant:p.G193R
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ACADVL

NM_000018.4:p.G193R

Associated Papers

Direct Prediction of VLCADD Severity Using Newborn Screening Analyte Data.

Schwantje M et al.

Journal of Inherited Metabolic Disease, 2026

41702539 (PubMed )
Supplement: JIMD-49-0-s001.pdf

Late-onset Very long-chain acyl-CoA dehydrogenase deficiency diagnosis complicated by fulminant myocarditis in adult patient.

Gérard M et al.

Journal of Intensive Medicine, 2024

Mitochondrial Genetic Disorders: Cell Signaling and Pharmacological Therapies.

Djouadi F et al.

Cells, 2019

Strategies for correcting very long chain acyl-CoA dehydrogenase deficiency.

Tenopoulou M et al.

The Journal of Biological Chemistry, 2015

PPARs as therapeutic targets for correction of inborn mitochondrial fatty acid oxidation disorders.

Djouadi F et al.

Journal of Inherited Metabolic Disease, 2008

Rhabdomyolysis in early-onset very long-chain acyl-CoA dehydrogenase deficiency despite normal glucose after fasting.

Engbers HM et al.

Journal of Inherited Metabolic Disease, 2005

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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."