Varaico: Literature-Extracted Genetic Variants

Gene:SLC25A20
Variant:p.A209T
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SLC25A20

NM_000387.6:p.A209T

Associated Papers

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

Neonatal Screening on Tandem Mass Spectrometry as a Powerful Tool for the Reassessment of the Prevalence of Underestimated Diseases in Newborns and Their Family Members: A Focus on Short Chain Acyl-CoA Dehydrogenase Deficiency.

Messina M et al.

International Journal of Neonatal Screening, 2020

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