Published February 23, 2024 | Version v1
Dataset Restricted

Dataset related to article: A NOVEL PATHOGENIC VARIANT IN THE SCA25-RELATED GENE EXPANDING THE ETIOLOGY OF EARLY-ONSET AND PROGRESSIVE CEREBELLAR ATAXIA IN CHILDHOOD

Authors/Creators

  • 1. Fondazione IRCCS Istituto Neurologico "Carlo Besta"

Description

List of the variants identified by the MitoIDT panel, containing 305 genes associated with mitochondrial disorders

List of prioritized rare variants from WES analysis, by using phenotype filters "Ataxia" and/or "cerebellar atrophy" (eVAI-Engenome tool)

List of all variants in the PNPT1 gene identified by WES

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Additional details

Related works

Is supplement to
Journal article: 10.1055/a-2205-2402 (DOI)