| Accession |
PRJCA004678 |
| Title |
PAX6 gene variation |
| Relevance |
Medical |
| Data types |
Whole genome sequencing
|
| Organisms |
Homo sapiens
|
| Description |
A novel deletion in PAX6 is responsible for congenital aniridia in the affected individuals of a Chinese family. |
| Sample scope |
Multiisolate |
| Release date |
2021-03-11 |
| Publication |
| PubMed ID |
Article title |
Journal name |
DOI |
Year |
| 34610801
|
A novel 4.25 kb heterozygous deletion in PAX6 in a Chinese Han family with congenital aniridia combined with cataract and nystagmus
|
BMC Ophthalmology
|
10.1186/s12886-021-02120-0
|
2021
|
|
|
| Grants |
| Agency |
program |
Grant ID |
Grant title |
| National Natural Science Foundation of China (NSFC)
|
|
81800878
|
|
|
|
| Submitter |
Xun
Xu (drxuxun@sjtu.edu.cn)
|
| Organization |
Shanghai General Hospital |
| Submission date |
2021-03-11 |
