P202: Looking locally for answers: A case report highlighting cellular localization assays of UBE3A to demonstrate pathogenicity in Angelman syndrome

Bibliographic Details
Main Authors: Liz Jalazo, Jennifer M. Mathews, Jalin Stelzer, Mattijs Punt, Jason Yi, Ype Elgersma, Elizabeth Jalazo
Format: Article
Language:English
Published: Elsevier 2023-01-01
Series:Genetics in Medicine Open
Online Access:http://www.sciencedirect.com/science/article/pii/S2949774423002303