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A novel, likely pathogenic variant in UBTF-related neurodegeneration with brain atrophy is associated with a severe divergent neurodevelopmental phenotype

  • Rory J. Tinker
  • , Tiffany Guess
  • , David C. Rinker
  • , Jonathan H. Sheehan
  • , Daniel Lubarsky
  • , Binu Porath
  • , Mackenzie Mosera
  • , Ping Mayo
  • , Emily Solem
  • , Laura A. Lee
  • , Asha Sharam
  • , Jennifer Brault

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

13   Link opens in a new tab Scopus citations

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Biochemistry, Genetics and Molecular Biology