A deep intronic DLG4 variant resulting in DLG4-related synaptopathy

Levy, A. M., Ganapathi, M., Chung, W. K., & Tümer, Z. (2023). A deep intronic DLG4 variant resulting in DLG4‐related synaptopathy. Clinical Genetics, 105(1), 77–80. Portico. https://doi.org/10.1111/cge.14411
Authors:
Amanda M Levy
Mythily Ganapathi
Wendy K Chung
Zeynep Tümer
Affiliated Authors:
Mythily Ganapathi
Wendy K Chung
Columbia Affiliation:
Subjects:
Mechanisms of Intracellular Membrane Trafficking (OpenAlex Topic)
Mitochondrial Dynamics and Reactive Oxygen Species Regulation (OpenAlex Topic)
Molecular Basis of Rett Syndrome and Related Disorders (OpenAlex Topic)
RNA Splicing (MeSH)
Mutation, Missense (MeSH)
Author Keywords:
alternative splicing
deep intronic variant
dlg4
dlg4-related synaptopathy
epilepsy
intellectual disability
neurodevelopmental disorder
psd-95
pseudoexon
elink
Publication Type:
Article
Unique ID:
10.1111/cge.14411
PMID:
37525972
DOI:
10.1111/cge.14411
Journal:
Clinical Genetics
Publication Date:
Data Source:
PubMed
Source Link:
View PubMed Record
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Record Created: