Published December 20, 2021
| Version v1
Dataset
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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."
Authors/Creators
- 1. Fondazione IRCCS Istituto Neurologico Carlo Besta
Description
Genetic data in VCF format and Sanger electropherograms of an Italian patient with spastic ataxia phenotype
Notes
Study supported by Italian Ministry of Health to Lorenzo Nanetti CP 20/2018 (Care-4NeuroRare) from Fondazione Regionale per la Ricerca Biomedica (FRRB) to FT
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Additional details
Related works
- Is supplement to
- Journal article: 10.3389/fneur.2021.793547 (DOI)