P483: Genome sequence re-analysis reveals de-novo FBXW7 canonical splice variant in newly described neurodevelopmental syndrome

Bibliographic Details
Main Authors: Daniel Helbling, Jerica Lenberg, Arivudainambi Ramalingam, Kristen Wigby
Format: Article
Language:English
Published: Elsevier 2023-01-01
Series:Genetics in Medicine Open
Online Access:http://www.sciencedirect.com/science/article/pii/S2949774423005307