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Adult Cerebellar Ataxia, Axonal Neuropathy, and Sensory Impairments Caused by Biallelic SCO2 Variants.

Benoit RuchetonClaire EwenczykPauline GaignardJean-Madeleine de Sainte AgatheAnne-Laure FauretVirginie SaillourSarah Leonard-LouisValérie TouitouFanny Mochel
Published in: Neurology. Genetics (2021)
Keyphrases
  • spinal cord injury
  • copy number
  • intellectual disability
  • early onset
  • childhood cancer
  • optic nerve
  • autism spectrum disorder
  • dna methylation
  • genome wide