geoopen
De novo mutation in ELOVL1 causes ichthyosis, acanthosis nigricans, and hypomyelination with lower extremity spastic paraplegia, high frequency deafness, and tunnel vision.
GEO Series GSE116986. Homo sapiens. 6 samples. Type: Expression profiling by high throughput sequencing.
ShareScore
24/100
Overall dataset sharing score
Score breakdown
These five areas show where the dataset supports — or may limit — practical reuse.
- Stewardship
- 4
- Harmonization
- 8
- Access
- 4
- Reuse readiness
- 0
- Engagement
- 8
Topics
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