- New Nonsense Variant c.2983G>T; p.Glu995* in the CACNA1A Gene Causes Progressive Autosomal Dominant Ataxia
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Saathoff Y, Biskup S, Funke C, Roth C
- KMID: 2511491
- J Mov Disord.
- 2021 Jan;14(1):70-74.
- doi: 10.14802/jmd.20082
The genetic testing of hereditary ataxias includes screening for CAG-repeat expansions as well as pathogenic variants and nontranslated oligonucleotide expansion, which can cause spinocerebellar ataxia (SCA). Genotype-phenotype correlations of several... -
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