zenodoopen
Phenopackets for case reports of structural variants
<p>A collection of 188 published deleterious structural variants based on 182 cases published in 146 clinical case reports that describe individuals with Mendelian diseases.</p>
ShareScore
44/100
Overall dataset sharing score
Score breakdown
These five areas show where the dataset supports — or may limit — practical reuse.
- Stewardship
- 8
- Harmonization
- 4
- Access
- 16
- Reuse readiness
- 8
- Engagement
- 8
Topics
ScienceDex for faculty
Your academic CV and NIH biosketch
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