Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene HUMAN MUTATION Zastrow, D. B., Baudet, H., Shen, W., Thomas, A., Si, Y., Weaver, M. A., Lager, A. M., Liu, J., Mangels, R., Dwight, S. S., Wright, M. W., Dobrowolski, S. F., Eilbeck, K., Enns, G. M., Feigenbaum, A., Lichter-Konecki, U., Lyon, E., Pasquali, M., Watson, M., Blau, N., Steiner, R. D., Craigen, W. J., Mao, R., ClinGen Inborn Errors Metab 2018; 39 (11): 1569–80

View details for DOI 10.1002/humu.23649

View details for Web of Science ID 000447138900011