Not to Miss: Intronic Variants, Treatment, and Review of the Phenotypic Spectrum in VPS13D-Related Disorder
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DOI: 10.3390/ijms24031874
Abstract: VPS13D is one of four human homologs of the vacuolar sorting protein 13 gene (VPS13). Biallelic pathogenic variants in the gene are associated with spastic ataxia or spastic paraplegia. Here, we report two patients with… read more here.
Keywords: vps13d related; intronic variants; review; spectrum ... See more keywords