Unique Aspects of Sequence Variant Interpretation for Inborn Errors of Metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene

The ClinGen Inborn Errors of Metabolism Working Group was tasked with creating a comprehensive, standardized knowledge base of genes and variants for metabolic diseases. Phenylalanine hydroxylase (PAH) deficiency was chosen to pilot development of the Working Group’s standards and guidelines. A PAH...

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書誌詳細
出版年:Hum Mutat
主要な著者: Zastrow, Diane B., Baudet, Heather, Shen, Wei, Thomas, Amanda, Si, Yue, Weaver, Meredith A., Lager, Angela, 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
フォーマット: Artigo
言語:Inglês
出版事項: 2018
主題:
Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC6556116/
https://ncbi.nlm.nih.gov/pubmed/30311390
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23649
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