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Novel Missense Mutation inSP110Associated with Combined Immunodeficiency and Advanced Liver Disease Without VOD.

Ottavia Maria DelmonteFabian BaldinNadia OvchinskyFlorian MarquardsenMike RecherLuigi D NotarangeloSlawomir M Kosinski
Published in: Journal of clinical immunology (2019)
Keyphrases
  • intellectual disability
  • autism spectrum disorder