| Accession |
PRJCA008711 |
| Title |
DEE56 in a Chinese family |
| Relevance |
Medical |
| Data types |
Raw sequence reads
|
| Organisms |
Homo sapiens
|
| Description |
We use trio-based whole-exome sequencing to search the etiology of a Chinese family with early-onset seizures, intellectual disability, and developmental delay. |
| Sample scope |
Multiisolate |
| Release date |
2022-03-18 |
| Publication |
| PubMed ID |
Article title |
Journal name |
DOI |
Year |
|
|
A heterozygous missense variant in the YWHAG gene causing developmental and epileptic encephalopathy 56 in a Chinese family
|
BMC Medical Genomics
|
10.1186/s12920-022-01377-8
|
2022
|
|
|
| Grants |
| Agency |
program |
Grant ID |
Grant title |
| the Taishan Scholars Program of Shandong Province
|
|
tsqn201909191
|
|
|
|
| Submitter |
Ying
Zhang (zhangying01225@163.com)
|
| Organization |
the Affiliated Hospital of Qingdao University |
| Submission date |
2022-03-18 |
