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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Bibliografiset tiedot
Julkaisussa:Hum Mutat
Päätekijät: 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
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: 2018
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Article
Linkit: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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