Zastrow, Diane B; Baudet, Heather; Shen, Wei; Thomas, Amanda; Si, Yue; Weaver, Meredith A; Lager, Angela M; 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 (2018). Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene. Human Mutation, 39(11):1569-1580.
Statistics
Citations
Dimensions.ai Metrics
Altmetrics
Additional indexing
| Item Type: | Journal Article, refereed, original work |
|---|---|
| Communities & Collections: | 04 Faculty of Medicine > University Children's Hospital Zurich > Medical Clinic |
| Dewey Decimal Classification: | 610 Medicine & health |
| Scopus Subject Areas: | Life Sciences > Genetics
Health Sciences > Genetics (clinical) |
| Uncontrolled Keywords: | Genetics(clinical), Genetics |
| Language: | English |
| Date: | 1 November 2018 |
| Deposited On: | 31 Jan 2019 13:41 |
| Last Modified: | 21 Sep 2023 01:36 |
| Publisher: | Wiley-Blackwell Publishing, Inc. |
| ISSN: | 1059-7794 |
| OA Status: | Closed |
| Publisher DOI: | https://doi.org/10.1002/humu.23649 |
Zastrow, Diane B