Varaico: Literature-Extracted Genetic Variants

Gene:ACADM
Variant:p.G85R
Back to variants list

ACADM

NM_000016.6:p.G85R

Associated Papers

Lymphocyte Medium-Chain Acyl-CoA Dehydrogenase Activity and Its Potential as a Diagnostic Confirmation Tool in Newborn Screening Cases.

Alcaide P et al.

Journal of Clinical Medicine, 2022

Expanded Newborn Screening Using Tandem Mass Spectrometry: Seven Years of Experience in Eastern Sicily.

Messina M et al.

International Journal of Neonatal Screening, 2018

Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism.

Scolamiero E et al.

Molecular Biosystems, 2015

Medium-chain acyl-CoA deficiency: outlines from newborn screening, in silico predictions, and molecular studies.

Catarzi S et al.

Thescientificworldjournal, 2013

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."