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1 Ergebnisse
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Unique aspects of sequence variant interpretation for inbor..:
Zastrow, Diane B.
;
Baudet, Heather
;
Shen, Wei
...
Human Mutation. 39 (2018) 11 - p. 1569-1580 , 2018
Link:
https://doi.org/10.1002/humu.23649
RT Journal T1
Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene
UL https://suche.suub.uni-bremen.de/peid=cr-10.1002_humu.23649&Exemplar=1&LAN=DE A1 Zastrow, Diane B. A1 Baudet, Heather A1 Shen, Wei A1 Thomas, Amanda A1 Si, Yue A1 Weaver, Meredith A. A1 Lager, Angela M. A1 Liu, Jixia A1 Mangels, Rachel A1 Dwight, Selina S. A1 Wright, Matt W. A1 Dobrowolski, Steven F. A1 Eilbeck, Karen A1 Enns, Gregory M. A1 Feigenbaum, Annette A1 Lichter‐Konecki, Uta A1 Lyon, Elaine A1 Pasquali, Marzia A1 Watson, Michael A1 Blau, Nenad A1 Steiner, Robert D. A1 Craigen, William J. A1 Mao, Rong A1 ClinGen Inborn Errors of Metabolism Working Group PB Hindawi Limited YR 2018 SN 1059-7794 SN 1098-1004 JF Human Mutation VO 39 IS 11 SP 1569 OP 1580 LK http://dx.doi.org/https://doi.org/10.1002/humu.23649 DO https://doi.org/10.1002/humu.23649 SF ELIB - SuUB Bremen
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