Varaico: Literature-Extracted Genetic Variants

Gene:ACADVL
Variant:p.G175D
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ACADVL

NM_000018.4:p.G175D

Associated Papers

Newborn screening for fatty acid oxidation disorders in a southern Chinese population.

Lin Y et al.

Heliyon, 2024

Outcomes of mitochondrial long chain fatty acid oxidation and carnitine defects from a single center metabolic genetics clinic.

Ambrose A et al.

Orphanet Journal of Rare Diseases, 2022

36109795 (PubMed )
Supplement: 13023_2022_2512_MOESM1_ESM.docx

Diagnosis, genetic characterization and clinical follow up of mitochondrial fatty acid oxidation disorders in the new era of expanded newborn screening: A single centre experience.

Maguolo A et al.

Molecular Genetics and Metabolism Reports, 2020

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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."