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Congenital neutropenia with variable clinical presentation in novel mutation of the SRP54 gene.

Lior GoldbergAmos J SimonGideon RechaviAtar LevOrtal BarelVered KunikAmos TorenGinette SchibyHannah TamaryOrna Steinberg-ShemerRaz Somech
Published in: Pediatric blood & cancer (2020)
We describe congenital neutropenia with variable clinical presentation in novel mutation of the SRP54 gene.
Keyphrases
  • copy number
  • genome wide
  • genome wide identification
  • chemotherapy induced
  • gene expression