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Clinical Sequencing Solves a Diagnostic Dilemma by Identifying a Novel Pathogenic Variant in USB1 Gene Causing Poikiloderma with Neutropenia.

Harikrishnan GangadharanKomal SinghShubha PhadkeAggarwal Amita
Published in: Indian journal of pediatrics (2020)
Keyphrases
  • copy number
  • single cell
  • genome wide
  • gene expression
  • genome wide identification
  • dna methylation
  • chemotherapy induced
  • transcription factor