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

Overview of attention for article published in Human Mutation, October 2018

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RT @ClinGenResource: Congratulations to the ClinGen PAH Expert Panel! Read "Unique aspects of sequence variant interpretation for inborn er…

04 Dec 2018

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Congratulations to the ClinGen PAH Expert Panel! Read "Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene" here https://t.co/qoGFuDZmux

28 Nov 2018

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ClinGen IEM group’s guidelines for assessing the pathogenicity of PAH variants @ClinGenResource #DNA #Genetics #ACMG https://t.co/DnqWeiT5v0

18 Oct 2018

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