Unique aspects of sequence variant interpretation for...

Human Mutation 2018 / 11 Vol. 39; Iss. 11

Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene

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.,
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Volume:
39
Language:
english
Journal:
Human Mutation
DOI:
10.1002/humu.23649
Date:
November, 2018
File:
PDF, 781 KB
english, 2018
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