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The compound pathogenic effects of a homozygous frameshift variant in the transmembrane region of GP9, causing Bernard-Soulier syndrome, with a missense variant in GP1BB.

Silvia FerrariDaniela RegazzoAnna CerboIrene CortellaAntonella BertomoroPaolo Simioni
Published in: British journal of haematology (2024)
Keyphrases
  • growth factor
  • intellectual disability
  • case report
  • autism spectrum disorder
  • recombinant human