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

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

doi:10.7490/f1000research.1113848.1

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Zastrow D, Baudet H, Si C et al. Creation and implementation of variant curation workflow for the ClinGen inborn errors in metabolism working group: phenylalanine hydroxylase deficiency [version 1; not peer reviewed]. F1000Research 2017, 6:392 (slides) (https://doi.org/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 Zastrow¹, Heather Baudet, Cindy Si, Meredith Weaver, Angela Lager, Kristy Lee, Wei Shen, Amanda Thomas, Jonathan Berg, Steven Dobrowolski, Karen Eilbeck, Gregory Enns, Annette Feigenbaum, Uta Lichter-Konecki, Elaine Lyon, Marzia Pasquali, William Craigen, Rong Mao, Robert Steiner

Published 29 Mar 2017 (https://doi.org/10.7490/f1000research.1113848.1)

Author Affiliations

¹ Stanford University School of Medicine, USA

Copyright © 2017 Zastrow D et al. This is an open access work distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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Published 29 Mar 2017

Creation and implementation of variant curation workflow for the ClinGen inborn errors in metabolism working group: phenylalanine hydroxylase deficiency
[version 1; not peer reviewed]

Author Affiliations

¹ Stanford University School of Medicine, USA

Presented at

10th International Biocuration Conference 2017

Abstract

Competing Interests

No competing interests were disclosed

Keywords

Variant curation workflow, phenylalanine hydroxyls deficiency, ClinGen

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