Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene

• 期刊名称Human Mutation
• 作者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.; Eilbeck, Karen; Enns, Gregory M.; Feigenbaum, Annette; Lichter-Konecki, Uta; Lyon, Elaine; Pasquali, Marzia; Watson, Michael; Blau, Nenad; Steiner, Robert D.; Craigen, William J.; Mao, Rong
• 卷第39卷
• 期第11期
• 印刷ISSN1059-7794
• 文件大小781.44KB
• 发表时间2018-11
• DOI10.1002/humu.23649
• 页码1569-1580