| Accession |
PRJCA030398 |
| Title |
A novel de novo variant of NACC1 caused epileptic encephalopathy and intellectual disability |
| Relevance |
Medical |
| Data types |
Exome
|
| Organisms |
Homo sapiens
|
| Description |
This is the first case revealing a novel NACC1 c.903A>G variant that induced a neurological impairment in an infant. This report expanded the understanding of the non-domain-associated variant of NACC1 and developmental disorder. |
| Sample scope |
Monoisolate |
| Release date |
2024-09-26 |
| Grants |
| Agency |
program |
Grant ID |
Grant title |
| No funding support
|
|
|
|
|
|
| Submitter |
Yifei
Li (liyfwcsh@scu.edu.cn)
|
| Organization |
West China Second University Hospital, Sichuan University |
| Submission date |
2024-09-23 |
