Work

Curation of Sequence Variants in Urea Cycle Genes

Year: 2023

Type: article

Source: Molecular Genetics and Metabolism

DOI: 10.1016/j.ymgme.2023.107488

Authors: Kara Simpson, Nicholas Ah. Mew, Ljubica Caldovic, William Craigen, Annette Feigenbaum, Raquel Fernandez, Emily Groopman, Andrea Gropman, Emily Kudalker, McKenna Kyriss, Uta Lichter-Konecki, Sandesh Nagamani, Elaine Spector, Amanda Thomas-Wilson, Manya Warrier, Meredith Weaver, Diane Zastrow

Institutions: Children's National, Baylor College of Medicine, University of California San Diego, American College of Medical Genetics, Boston Children's Hospital, University of Colorado Anschutz, University of Pittsburgh, New York Genome Center, Invitae (United States)

Language: English

Topic: Metabolism and Genetic Disorders

Subfield: Clinical Biochemistry

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDGs: Good health and well-being, Reduced inequalities

Open Access status: closed

OpenAlex ID: W4322618619

FWCI: 0.196

Cites:

Cited by: 1

Related to: 10