Novel De Novo Intronic Variant of <scp>SYNGAP1</scp> Associated With the Neurodevelopmental Disorders
Our findings highlight the significance of de novo pathogenic SYNGAP1 variants at the intron 16/exon 17 junction in the SYNGAP1-related neurodevelopmental disorders, providing novel insights into the genetic basis and diagnosis of these disabilities.
Authors
- Shuwen He
- Min Jeong Hong
- Mei Shuai
- Wuming Xie
- Baoqiong Liao
- Rutian Liu
Institutions
- Fujian Medical University (CN)
- Ganzhou People's Hospital (CN)
- Gansu Provincial Maternal and Child Health Hospital (CN)
- University of Gothenburg (SE)
Publication Details
- Journal
- Molecular Genetics & Genomic Medicine
- Published
- 2025-01-29
- DOI
- https://doi.org/10.1002/mgg3.70066
- Citations
- 1
- Primary Topic
- Cellular transport and secretion
- Type
- article
- Field-Weighted Citation Impact
- 1.15