Varaico: Literature-Extracted Genetic Variants

Gene:ACADVL
Variant:p.I184delFs
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ACADVL

NM_000018.4:p.I184delFs

Associated Papers

Clinical and biochemical outcome of patients with very long-chain acyl-CoA dehydrogenase deficiency.

Rovelli V et al.

Molecular Genetics and Metabolism, 2019

Infants suspected to have very-long chain acyl-CoA dehydrogenase deficiency from newborn screening.

Merritt JL et al.

Molecular Genetics and Metabolism, 2014

The effect of valinomycin in fibroblasts from patients with fatty acid oxidation disorders.

Ndukwe Erlingsson UC et al.

Biochemical and Biophysical Research Communications, 2013

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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."