Varaico: Literature-Extracted Genetic Variants

Gene:ACADVL
Variant:p.L172P
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ACADVL

NM_000018.4:p.L172P

Associated Papers

Lipidomic and Proteomic Alterations Induced by Even and Odd Medium-Chain Fatty Acids on Fibroblasts of Long-Chain Fatty Acid Oxidation Disorders.

Alatibi KI et al.

International Journal of Molecular Sciences, 2021

Different Lipid Signature in Fibroblasts of Long-Chain Fatty Acid Oxidation Disorders.

Alatibi KI et al.

Cells, 2021

Serum C14:1/C12:1 ratio is a useful marker for differentiating affected patients with very long-chain acyl-CoA dehydrogenase deficiency from heterozygous carriers.

Yamada K et al.

Molecular Genetics and Metabolism Reports, 2019

The diagnostic challenge in very-long chain acyl-CoA dehydrogenase deficiency (VLCADD).

Hesse J et al.

Journal of Inherited Metabolic Disease, 2018

Four Years' Experience in the Diagnosis of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency in Infants Detected in Three Spanish Newborn Screening Centers.

Merinero B et al.

Jimd Reports, 2018

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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."