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ECHS1 disease in two unrelated families of Samoan descent: Common variant – rare disorder

Date: June 30, 2023

Authors:
Daniel D Nguyen, Daniel E Weeks, David Dimmock, Frédéric M Vaz, James Pitt, …

Journal: American journal of medical genetics

Journal Volume: 185

Topics:

Rare Disease

Collaborators:

Amsterdam Gastroenterology and Metabolism
Brown University
California State University Long Beach
Children's Hospital of Orange County, CA (CHOC)
Hawai'i Pacific Health
Lutia i Puava ae Mapu i Fagalele
Ministry of Health
Murdoch Childrens Research Institute
Rady Children's Institute for Genomic Medicine
University of California, Irvine
University of California, Los Angeles
University of Pittsburgh
Western University of Health Sciences

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