| 样本编号 | SAMC4151983 |
|---|---|
| 外部数据库编号 | GSA-Human: HRS1366451 |
| 样品名称 | ACC1 |
| 样本标题 | CM |
| 样品类型 | Human sample |
| 物种名称 | Homo sapiens |
| 描述信息 | WES for CM |
| 样本属性 | *该样本包含更多受控访问信息，请通过GSA-Human系统申请项目HRA008639数据获取。 |
| 发布日期 | 2024-09-26 |
| 项目编号 | PRJCA030398 |
| 提交者 | Yifei Li (liyfwcsh@scu.edu.cn) |
| 提交单位 | West China Second University Hospital, Sichuan University |
| 提交日期 | 2024-09-24 |
| 资源名称 | 描述 |
|---|---|
| GSA-Human (1) | - |
| HRA008639 (Controlled Access) | 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. |