PMC Links for Nucleotide (Select 2462721) - PMC

Result Filters

Links from Nucleotide

Items: 3

Select item 1464021.

The PAH mutation analysis consortium database: update 1996.

P Nowacki, S Byck, L Prevost, C R Scriver

Nucleic Acids Res. 1997 Jan 1; 25(1): 139–142. doi: 10.1093/nar/25.1.139

PMCID:: PMC146402

Summary PDF–92K

Select item 65561162.

Unique Aspects of Sequence Variant Interpretation for Inborn Errors of Metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene

Diane B. Zastrow, Heather Baudet, Wei Shen, Amanda Thomas, Yue Si, Meredith A. Weaver, Angela Lager, Jixia Liu, Rachel Mangels, Selina S. Dwight, Matt W. Wright, Steven F. Dobrowolski, Karen Eilbeck, Gregory M. Enns, Annette Feigenbaum, Uta Lichter-Konecki, Elaine Lyon, Marzia Pasquali, Michael Watson, Nenad Blau, Robert D. Steiner, William J. Craigen, Rong Mao

Hum Mutat. Author manuscript; available in PMC 2019 Nov 1.

Published in final edited form as: Hum Mutat. 2018 Nov; 39(11): 1569–1580. doi: 10.1002/humu.23649