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A new case of SMA phenotype without epilepsy due to biallelic variants in ASAH1.

Nadine A M E van der BeekIsabelle NelsonRoseline FroissartThierry LevadeVirginie GarciaEmmanuelle LaceneAnne BolandCécile MassonNorma B RomeroTanya StojkovicGisèle BonneAnthony Béhin
Published in: European journal of human genetics : EJHG (2018)
Keyphrases
  • copy number
  • intellectual disability
  • autism spectrum disorder