| Accession | SAMC1645384 |
|---|---|
| Accession in Other Database | GSA-Human: HRS147598 |
| Sample name | C9 |
| Title | III:3 |
| Sample type | Human sample |
| Organism | Homo sapiens |
| Description | Blood of D9 |
| Attributes | *This sample record contains additional controlled-access information that is avaiable from GSA-Human by requesting study HRA000707 in the GSA-Human system. |
| Release date | 2021-10-31 |
| BioProject Accession | PRJCA004678 |
| Submitter | Xun Xu (drxuxun@sjtu.edu.cn) |
| Organization | Shanghai General Hospital |
| Submission date | 2023-06-18 |
| Resource name | Description |
|---|---|
| GSA-Human (1) | - |
| HRA000707 (Controlled Access) | A novel deletion mutation in the PAX6 gene was found in a Han Chinese family with congenital aniridia, which may provide additional clues for identifying the transcription mechanism of PAX6. This line of investigation can provide insights towards identifying new gene defects of PAX6. |