Specifications of the ACMG/AMP guidelines for ACADVL variant interpretation
May Flowers, Alexa Dickson, Marcus J. Miller, Elaine Spector, Gregory M. Enns, Heather Baudet, Marzia Pasquali, Lemuel Racacho, Kianoush Sadre-Bazzaz, Ting Wen, Melissa Fogarty, Raquel Fernandez, Meredith Weaver, Annette Feigenbaum, Brett H. Graham, Rong Mao
Topics & Concepts
ConcordanceNewborn screeningPhenotypeInborn error of metabolismComputational biologyMolecular diagnosticsBioinformaticsMedicineComputer scienceBiologyGeneticsGeneInternal medicineMetabolism and Genetic DisordersBiochemical and Molecular ResearchGenomics and Rare Diseases