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

Human Mutation,Volume 39, Issue 11, Page 1569-1580, November 2018.

Source: Human Mutation - October 12, 2018 Category: Genetics & Stem Cells Authors: Diane B. Zastrow, Heather Baudet, Wei Shen, Amanda Thomas, Yue Si, Meredith A. Weaver, Angela M. Lager, Jixia Liu, Rachel Mangels, Selina S. Dwight, Matt W. Wright, Steven F. Dobrowolski, Karen Eilbeck, Gregory M. Enns, Annette Feigenbaum, Source Type: research