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- Title
Undiagnosed Disease Network collaborative approach in diagnosing rare disease in a patient with a mosaic CACNA1D variant.
- Authors
Ezell, Kimberly M.; Tinker, Rory J.; Furuta, Yutaka; Gulsevin, Alican; Bastarache, Lisa; Hamid, Rizwan; Cogan, Joy D.; Rives, Lynette; Neumann, Serena; Corner, Brian; Kozuria, Mary; Phillips, John A.; Adams, David R.; Afzali, Ben; Al‐Beshri, Ali; Allworth, Aimee; Alvarez, Raquel L.; Alvey, Justin; Andrews, Ashley; Ashley, Euan A.
- Publication
American Journal of Medical Genetics. Part A, 2024, Vol 194, Issue 7, p1
- ISSN
1552-4825
- Publication type
Article
- DOI
10.1002/ajmg.a.63597