zenodorestricted
Dataset related to article "Multifaceted and age-dependent phenotypes associated with biallelic PNPLA6 gene variants: eight novel cases and review of the literature."
<p>Genetic data in VCF format and Sanger electropherograms of an Italian patient with spastic ataxia phenotype</p>
ShareScore
16/100
Overall dataset sharing score
Score breakdown
These five areas show where the dataset supports — or may limit — practical reuse.
- Stewardship
- 8
- Harmonization
- 4
- Access
- 0
- Reuse readiness
- 0
- Engagement
- 4
Topics
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