Creation and implementation of variant curation workflow for the ClinGen inborn errors in metabolism working group: phenylalanine hydroxylase deficiency

Zastrow, Diane B.; Baudet, Heather; Si, Cindy; Weaver, Meredith; Lager, Angela M.; Lee, Kristy; Shen, Wei; Thomas, Amanda L.; Berg, Jonathan; Dobrowolski, Steven F.; Eilbeck, Karen; Enns, Gregory M.; Feigenbaum, Annette; Lichter‐Konecki, Uta; Lyon, Elaine; Pasquali, Marzia; Craigen, William; Mao, Rong; Steiner, Robert A.

doi:10.7490/f1000research.1113848.1

2017

DOI: 10.7490/f1000research.1113848.1

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Creation and implementation of variant curation workflow for the ClinGen inborn errors in metabolism working group: phenylalanine hydroxylase deficiency

Diane B. Zastrow¹,

Heather Baudet²,

Cindy Si³

et al.

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Creation and implementation of variant curation workflow for the ClinGen inborn errors in metabolism working group: phenylalanine hydroxylase deficiency

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