Molecular diagnosis of neurological genetic diseases in children
| Title | Molecular diagnosis of neurological genetic diseases in children |
|---|---|
| Description | Clinical and laboratory tests were carried out for the patient, combine with the results of the next generation sequencing, the patient and the parent's genomic DNA was extracted from peripheral blood lymphocytes, suspected variant was validated by Sanger sequencing. |
| Organism | Homo sapiens |
| Data Type | Other Type of Genomic Data |
| Data Accessibility | Controlled-access |
| BioProject | PRJCA010728 |
| Release Date | 2022-10-08 |
| Submitter | Yang Tian (948938756@qq.com) |
| Organization | Guangzhou Women and Children's Medical Center |
| Submission Date | 2022-10-02 |
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| File ID | File Title | Number/Samples | File Type | File Size | File Suffix | Download Times | Download |
|---|---|---|---|---|---|---|---|
| OMIX002005-01 | Sanger sequencing chromatograms of the patient and the family with PIGW mutations | 1 | Other Type of Genomic Data | 84.8 KB | zip | 0 | Controlled |
| OMIX002005-02 | Sanger sequencing chromatograms of patients with PRRT2 mutations | 1 | Other Type of Genomic Data | 103.3 KB | rar | 0 | Controlled |