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Compilation of genotype and phenotype data in GCDH-LOVD for variant classification and further application by Tibelius, Alexandra (Author) , Evers, Christina (Author) , Oeser, Sabrina (Author) , Rinke, Isabelle (Author) , Jauch, Anna (Author) , Hinderhofer, Katrin (Author) ,

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Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): the ClinGen IEM Working Group and the phenylalanine hydroxylase gene by Zastrow, Diane B. (Author) , Baudet, Heather (Author) , Shen, Wei (Author) , Thomas, Amanda (Author) , Si, Yue (Author) , Weaver, Meredith A. (Author) , Lager, Angela M. (Author) , Liu, Jixia (Author) , Mangels, Rachel (Author) , Dwight, Selina S. (Author) , Wright, Matt W. (Author) , Dobrowolski, Steven F. (Author) , Eilbeck, Karen (Author) , Enns, Gregory M. (Author) , Feigenbaum, Annette (Author) , Lichter‐Konecki, Uta (Author) , Lyon, Elaine (Author) , Pasquali, Marzia (Author) , Watson, Michael (Author) , Blau, Nenad (Author) , Steiner, Robert D. (Author) , Craigen, William J. (Author) , Mao, Rong (Author) ,

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