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 |