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DATASET RELATED TO ARTICLE: "Multifaceted and Age-Dependent Phenotypes Associated With Biallelic PNPLA6 Gene Variants: Eight Novel Cases and Review of the Literature"

<p>Description of clinical and genetic data of eight PNPLA6 patients diagnosed at Besta Institute and summary of the literature previuos data for patients with the same disease.</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

Cerebellar ataxia spastic paraplegia hypogonadotropic hypogonadism chorioretinal dystrophy Gordon Holmes syndrome Boucher Neuhauser syndrome Oliver Mc Farlane syndrome

DATASET RELATED TO ARTICLE: "Multifaceted and Age-Dependent Phenotypes Associated With Biallelic PNPLA6 Gene Variants: Eight Novel Cases and Review of the Literature"

Score breakdown

Topics

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