| Accession | HRS1208945 |
|---|---|
| BioSample Accession | SAMC3485874 |
| Individual accession | HRI949581 |
| Study accession | HRA007036 |
| Sample name | E242QandQ46X |
| Sample title | DPH1 compound mutations |
| Collection date | 2017-05-09 |
| Sample Type | Disease |
| Description | Whole exome sequencing of a patient with DPH1 mutations |
| Tissue | peripheral blood |
| Age | 4(year) |
| Release date | 2024-03-31 |