O04: Developing a framework for sequence variant interpretation for multiple X-linked inborn errors of metabolism: The ClinGen IEM Working Group Experience

Bibliographic Details
Published in:	Genetics in Medicine Open
Main Authors:	Emily Groopman, Amanda Thomas-Wilson, Shruthi Mohan, Jennifer Goldstein, Meredith Weaver, Raquel Fernandez, Heidi Wallis, Ljuba Caldovic, Nicholas Ah Mew, Irene De Biase, Ann Moser, Sharon Suchy, Tatiana Yuzyuk, Sarah Young, Saadet Mercimek-Andrews, Nancy Braverman, Rong Mao
Format:	Article
Language:	English
Published:	Elsevier 2023-01-01
Online Access:	http://www.sciencedirect.com/science/article/pii/S2949774423000055

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