| Accession |
PRJCA004120 |
| Title |
Exome sequencing of FEVR samples |
| Relevance |
Medical |
| Data types |
Exome
Variation
|
| Organisms |
Homo sapiens
|
| Description |
Whole exome sequencing analysis to identify novel mutation underlying FEVR families in China. |
| Sample scope |
Multiisolate |
| Release date |
2020-12-23 |
| Publication |
| PubMed ID |
Article title |
Journal name |
DOI |
Year |
| 33497368
|
Catenin α 1 mutations cause familial exudative vitreoretinopathy by overactivating Norrin/β-catenin signaling
|
The Journal of Clinical Investigation
|
10.1172/JCI139869
|
2021
|
|
|
| Grants |
| Agency |
program |
Grant ID |
Grant title |
| National Natural Science Foundation of China (NSFC)
|
General Program
|
81770964
|
|
|
|
| Submitter |
Peiquan
Zhao (zhaopeiquan@xinhuamed.com.cn)
|
| Organization |
Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University |
| Submission date |
2020-12-23 |
