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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

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author: W Shen  Mathew W Wright  Selina S Dwight  Diane B Zastrow  Nenad Blau  Robert D. Steiner  Karen Eilbeck 

Publication date November 1, 2018
Language English
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