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
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List of the variants identified by the MitoIDT panel, containing 305 genes associated with mitochondrial disordersList 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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Zenodo创建时间：
2024-02-23
