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Paper Details

A deep intronic DLG4 variant resulting in DLG4-related synaptopathy.
Clin Genet
2
2024
DLG4, DLG4 mRNA, DLG4 transcripts, DLG4 variant, DLG4 variants, DLG4-related synaptopathy, PSD-95, RNA, autosomal dominant brain disorder, boy, c.2105+235C, deep, deep intronic DLG4 variant, deep intronic variant, deep intronic variants, peripheral blood, pseudoexon, splice site variants, tissue, tissue-specific gene
Author NameAffiliation
Wendy K ChungColumbia University Irving Medical Center
Wendy K ChungColumbia University Irving Medical Center
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