| Accession |
PRJCA034215 |
| Title |
Identification of a Novel AGO2 Variation Causing LESKRES in a Chinese Family with Intellectual Disability |
| Relevance |
Medical |
| Data types |
Phenotype or Genotype
Targeted Locus (Loci)
|
| Organisms |
Homo sapiens
|
| 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. |
| Sample scope |
Monoisolate |
| Release date |
2024-12-27 |
| Publication |
| PubMed ID |
Article title |
Journal name |
DOI |
Year |
| 40574801
|
Identification of a novel AGO2 variant causing LESKRES in a Chinese family with intellectual disability
|
Frontiers in Genetics
|
10.3389/fgene.2025.1598462
|
2025
|
|
|
| Grants |
| Agency |
program |
Grant ID |
Grant title |
| No funding support
|
|
|
|
|
|
| Submitter |
shufa
yang (13651183067@163.com)
|
| Organization |
Beijing Obstetrics and Gynecology Hospital, Capital Medical University |
| Submission date |
2024-12-26 |
