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

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Date: June 30, 2023
Authors:
Mariella T.Simon, Shaya S.Eftekharian, Sacha Ferdinandusse, Sha Tang, Take Naseri, Muagututi’a Sefuiva Reupena, Stephen T McGarvey, Ryan L Minster, Daniel E Weeks, Daniel D Nguyen, Sansan Lee, Katarzyna A Ellsworth, Frédéric M Vaz, David Dimmock, James Pitt, Jose E. Abdenur
Journal: American journal of medical genetics
Journal Volume: 185