Varaico: Literature-Extracted Genetic Variants

Gene:ACADM
Variant:p.A372insFs
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ACADM

NM_000016.6:p.A372insFs

Associated Papers

Free carnitine concentrations and biochemical parameters in medium-chain acyl-CoA dehydrogenase deficiency: Genotype-phenotype correlation.

Weiss KJ et al.

Clinical Genetics, 2023

Impact of Newborn Screening and Early Dietary Management on Clinical Outcome of Patients with Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency and Medium Chain Acyl-CoA Dehydrogenase Deficiency-A Retrospective Nationwide Study.

Rücklová K et al.

Nutrients, 2021

34578803 (PubMed )
Supplement: nutrients-13-02925-s001.zip › nutrients-1342379-supplementary.pdf

Functional effects of different medium-chain acyl-CoA dehydrogenase genotypes and identification of asymptomatic variants.

Sturm M et al.

Plos One, 2012

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