| 样本编号 | SAMC1867391 |
|---|---|
| 外部数据库编号 | GSA-Human: HRS273184 |
| 样品名称 | P2ZM |
| 样本标题 | LS2ZM |
| 样品类型 | Human sample |
| 物种名称 | Homo sapiens |
| 描述信息 | The mother of patient 2 had a splicing variant c.2257-2A>T in OCRL intron 20 (NM_000276.3). Her sequencing result showed a heterozygous mutation. |
| 样本属性 | *由于样本关联的数据集HRA001169尚未在科技部完成人类遗传资源信息备案，本页面只展示部分样本信息。 |
| 发布日期 | 2021-08-23 |
| 项目编号 | PRJCA006158 |
| 提交者 | Yu Zhang (yuzhang497@163.com) |
| 提交单位 | Tongji Hospital of Tongji Medical College of Huazhong University of Science and Technology |
| 提交日期 | 2023-06-18 |
| 资源名称 | 描述 |
|---|---|
| GSA-Human (1) | - |
| HRA001169 (Open Access) | Using whole-exome sequencing, this study reports two novel OCRL variants associated with severe ocular and neurologic deficiency in spite of a mild renal dysfunction. |