FONDAZIONE IRCCS ISTITUTO NEUROLOGICO "CARLO BESTA"
Published February 23, 2023 | Version v1
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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"

Description

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.

Notes

FUNDING: Grant CP 20/2018 (Care4NeuroRare) from the Fondazione Regionale per la Ricerca Biomedica (FRRB), and grant RF-2018-12367768 from the Italian Ministry of Health to Franco Taroni.

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Additional details

Related works

Is supplement to
Journal article: 10.3389/fneur.2021.793547 (DOI)