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Identification of novel mutations and phenotype in the steroid resistant nephrotic syndrome gene NUP93: a case report.

Ibrahim SandokjiJonathan MarquezWeizhen JiCynthia A ZerilloMonica KonstantinoSaquib A LakhaniMustafa K KhokhaJillian K Warejko
Published in: BMC nephrology (2019)
NUP93 may convey a phenotype that has not only SRNS, but also other syndromic features.
Keyphrases
  • intellectual disability
  • genome wide
  • copy number
  • gene expression
  • transcription factor