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A Second Case With the V374A KCND3 Pathogenic Variant in an Italian Patient With Early-Onset Spinocerebellar Ataxia.

Flavia PalomboChiara La MorgiaClaudio FioriniLeonardo CaporaliMaria Lucia ValentinoVincenzo DonadioRocco LiguoriValerio Carelli
Published in: Neurology. Genetics (2022)
mutation and suggests that the ataxic paroxysmal exacerbations are not a key phenotypic feature of this mutation.
Keyphrases
  • early onset
  • late onset
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  • cystic fibrosis
  • machine learning
  • case report
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  • catheter ablation