Varaico: Literature-Extracted Genetic Variants

Gene:SLC25A20
Variant:p.P46S
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SLC25A20

NM_000387.6:p.P46S

Associated Papers

Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples.

Maier EM et al.

Journal of Inherited Metabolic Disease, 2023

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

Carnitine transport and fatty acid oxidation.

Longo N et al.

Biochimica Et Biophysica Acta, 2016

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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."