| Accession |
PRJCA013814 |
| Title |
Limb girdle muscular dystrophy 23 caused by compound heterozygous LAMA 2 mutations |
| Relevance |
Medical |
| Data types |
Whole genome sequencing
|
| Organisms |
Homo sapiens
|
| Description |
Our data expanded the spectrum of pathogenic mutations in LGMD23 and put new insights into the genetic counseling, prenatal diagnosis and preimplantation genetic testing (PGT) for the disease. |
| Sample scope |
Monoisolate |
| Release date |
2023-06-16 |
| Grants |
| Agency |
program |
Grant ID |
Grant title |
| National Natural Science Foundation of China (NSFC)
|
|
81901382
|
|
| National Natural Science Foundation of China (NSFC)
|
|
82171848
|
|
|
|
| Submitter |
Minyue
Dong (dongmy@zju.edu.cn)
|
| Organization |
Women's hospital, School of Medicine, Zhejiang University |
| Submission date |
2022-12-10 |
