O04: Developing a framework for sequence variant interpretation for multiple X-linked inborn errors of metabolism: The ClinGen IEM Working Group Experience
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
|
Series: | Genetics in Medicine Open |
Online Access: | http://www.sciencedirect.com/science/article/pii/S2949774423000055 |
Similar Items
-
P020: Recommendations from the ClinGen Peroxisomal Variant Curation Expert Panel for variant classification in ABCD1
by: Shruthi Mohan, et al.
Published: (2024-01-01) -
P002: Investigating the impact of the 2022 ClinGen missense variant interpretation recommendations for cerebral creatine deficiency syndromes*
by: Emily Groopman, et al.
Published: (2024-01-01) -
O56: The Clinical Genome Resource (ClinGen): Engaging the patient community in ClinGen’s work through Facebook Hereditary Cancer Groups
by: Deborah Ritter, et al.
Published: (2023-01-01) -
P155: The ClinGen framework for naming monogenic diseases*
by: Courtney Thaxton, et al.
Published: (2024-01-01) -
P673: Batch ClinVar submission support in ClinGen’s Variant Curation Interface (VCI)
by: Matthew Wright, et al.
Published: (2023-01-01)