Applying phenotypic evidence to support the molecular diagnosis of inborn errors of metabolism (IEMS) across diverse clinical contexts: The ClinGen IEM variant curation expert panel (VCEP) experience
Groopman, Emily, Goldstein, Jenny, Dickson, Alexa, Zastrow, Diane, Mohan, Shruthi, Thomas-Wilson, Amanda, Caldovic, Ljubica, Kyle, Emily, Yuzyuk, Tatiana, De Biase, Irene, Simpson, Kara, Kanavy, Dona, Spector, Elaine, Pasquali, Marzia, Rehder, Catherine, Stergachis, Andrew, Whirl-Carlo, Michelle, Baudet, Heather, Hung, Christina, Braverman, Nancy E., Mercimek-Andrews, Saadet, Weaver, Meredith, Craigen, William, Mao, Rong
Published in Molecular genetics and metabolism (01.04.2024)
Published in Molecular genetics and metabolism (01.04.2024)
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