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New heterozygous variant in GP1BB gene is responsible for an inherited form of macrothrombocytopenia.

Silvia FerrariAnna M LombardiIrene CortellaMaria A BusinaroAntonella BertomoroIrene Di PasqualeFabrizio Fabris
Published in: British journal of haematology (2018)
Keyphrases
  • early onset
  • growth factor
  • copy number
  • genome wide
  • genome wide identification
  • recombinant human