SSBP1 sample
The dataset includes exome sequencing results for a patient with SSBP1 mutations that cause a complex optic atrophy spectrum disorder
- 1 sample
- DAC: EGAC00001001375
For each dataset that requires access control, there is a corresponding Data Access Committee (DAC) who determine access permissions. Data access requests are reviewed by the relevant DAC, not by the EGA. If you need to request access to this data set, please contact:
Controlled access based on specific requests. If you need to request access to this data set, please contact the Data access committee SSBP1
Studies are experimental investigations of a particular phenomenon, e.g., case-control studies on a particular trait or cancer research projects reporting matching cancer normal genomes from patients.
| Study ID | Study Title | Study Type |
|---|---|---|
| Other |
This table displays only public information pertaining to the files in the dataset. If you wish to access this dataset, please submit a request. If you already have access to these data files, please consult the download documentation.
| ID | File Type | Size | Located in | |
|---|---|---|---|---|
| EGAF00002847838 | vcf | 33.6 MB | ||
| 1 File (33.6 MB) | ||||