Varaico: Literature-Extracted Genetic Variants

Gene:ACADM
Variant:p.P258L
Back to variants list

ACADM

NM_000016.6:p.P258L

Associated Papers

Novel insights into fatty acid oxidation, amino acid metabolism, and insulin secretion from studying patients with loss of function mutations in 3-hydroxyacyl-CoA dehydrogenase.

Heslegrave AJ et al.

The Journal of Clinical Endocrinology and Metabolism, 2013

Sequencing from dried blood spots in infants with "false positive" newborn screen for MCAD deficiency.

McCandless SE et al.

Molecular Genetics and Metabolism, 2013

Genetic defects in fatty acid beta-oxidation and acyl-CoA dehydrogenases. Molecular pathogenesis and genotype-phenotype relationships.

Gregersen N et al.

European Journal of Biochemistry, 2004

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."