zenodoopen
VCF file of an individual with a variant in the RLIM gene
<p>The VCF file was obtained from whole-exome sequencing data of a DNA sample from an individual with a likely pathogenic variant in the RLIM gene (MIM 300379), which causes Tønne-Kalscheuer syndrome (MIM 300978).</p> <ul> <li>proband.vcf is a file of an affected individual (proband) with a variant in the RLIM gene.</li> </ul>
ShareScore
36/100
Overall dataset sharing score
Score breakdown
These five areas show where the dataset supports — or may limit — practical reuse.
- Stewardship
- 4
- Harmonization
- 4
- Access
- 20
- Reuse readiness
- 8
- Engagement
- 0
Dataset details
- Repository
- zenodo
- Published
- August 6, 2024
- License
- cc-by-4.0
- DOI
- 10.5281/zenodo.13256060
Scored with release 0.9.0
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