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Short-read genome sequencing allows 'en route' diagnosis of patients with atypical Friedreich ataxia.

Zofia FleszarClaudia DufkeMarc SturmRebecca SchüleLudger SchölsTobias B HaackMatthis Synofzik
Published in: Journal of neurology (2023)
Keyphrases
  • single cell
  • single molecule
  • early onset
  • genome wide
  • gene expression