Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): the ClinGen IEM Working Group and the phenylalanine hydroxylase gene - Zastrow, Diane B.; Baudet, Heather; Shen, Wei; Thomas, Amanda; Si, Yue; Weaver, Meredith A.; Lager, Angela M.; Liu, Jixia; Mangels, Rachel; Dwight, Selina S.; Wright, Matt W.; Dobrowolski, Steven F.; et al. (Human mutation, 2018)
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