| 项目编号 |
PRJCA034215 |
| 项目标题 |
Identification of a Novel AGO2 Variation Causing LESKRES in a Chinese Family with Intellectual Disability |
| 涉及领域 |
Medical |
| 数据类型 |
Phenotype or Genotype
Targeted Locus (Loci)
|
| 物种名称 |
Homo sapiens
|
| 描述信息 |
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. |
| 样品范围 |
Monoisolate |
| 发布日期 |
2024-12-27 |
| 出版信息 |
| PubMed ID |
文章标题 |
杂志名称 |
Doi |
发表年份 |
| 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
|
|
|
| 项目资金来源 |
| 机构 |
项目类型 |
授权项目ID |
授权项目名称 |
| No funding support
|
|
|
|
|
|
| 提交者 |
shufa
yang (13651183067@163.com)
|
| 提交单位 |
Beijing Obstetrics and Gynecology Hospital, Capital Medical University |
| 提交日期 |
2024-12-26 |
