| Title | Identification of a Novel AGO2 Variation Causing LESKRES in a Chinese Family with Intellectual Disability |
|---|---|
| Description | In conclusion, this study identifies a novel AGO2 variation causing LESKRES in the Chinese population for the first time. Our findings expand the variation spectrum of AGO2 leading to LESKRES and highlight the value of WES in diagnosing genetic causes of intellectual disabilities. |
| Organism | Homo sapiens |
| Data Type | Clinical Research data |
| Data Accessibility | Controlled-access |
| BioProject | PRJCA034215 |
| Release Date | 2024-12-27 |
| Submitter | shufa yang (13651183067@163.com) |
| Organization | Beijing Obstetrics and Gynecology Hospital, Capital Medical University |
| Submission Date | 2024-12-26 |
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| File ID | File Title | Number/Samples | File Type | File Size | File Suffix | Download |
|---|---|---|---|---|---|---|
| OMIX008433-01 | proband | 1 | Clinical Research data | 9.0 KB | xlsx | Controlled |
| Paper Title | Journal Name | Publish Time | Accession | Citing Type |
|---|---|---|---|---|
| Identification of a novel AGO2 variant causing LESKRES in a Chinese family with intellectual disability | Frontiers in Genetics | 2025-06 | OMIX008433 | Deposit |