zenodoopen
Dataset Related to article "NEURODEVELOPMENTAL DISORDER AND LATE-ONSET DEGENERATIVE PARKINSONISM IN A PATIENT WITH A WDR45 DEFECT"
<p>NGS data (.vcf; .bam; .bam.bai; .csv; .fastq) of patient analysed and sanger sequencing (.abi) for confirm the mutation.</p>
ShareScore
40/100
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
- 4