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Intermittent episodes of acute severe encephalomyopathy and early death in two siblings caused by biallelic likely pathogenic variants in FASTKD2: Expanding phenotype and literature review

  • Namanpreet Kaur
  • , Puneeth H. Somashekar
  • , Sekar Deepha
  • , Periyasamy Govindaraj
  • , Anju Shukla
  • , Siddaramappa J. Patil*
    • *Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

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