Heterozygous PNPT1 variants cause spinocerebellar ataxia type 25.
Sign Up to like & getrecommendations! Published in 2022 at "Annals of neurology"
DOI: 10.1002/ana.26366
Abstract: OBJECTIVE Dominant spinocerebellar ataxias (SCA) are characterized by genetic heterogeneity. Some mapped and named loci remain without a causal gene identified. Here we applied next generation sequencing (NGS) to uncover the genetic etiology of the… read more here.
Keywords: pnpt1 variants; ataxia; variants cause; pnpt1 ... See more keywords