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Biallelic truncating variants in ATP9A cause a novel neurodevelopmental disorder involving postnatal microcephaly and failure to thrive.

Research output: Contribution to journalResearch article

17 Citations (Web of Science)
Original languageEnglish
JournalJournal of Medical Genetics
DOIs
Publication statusPublished - 2022

Branches of science

  • 301 Medical-Theoretical Sciences, Pharmacy
  • 302 Clinical Medicine
  • 305 Other Human Medicine, Health Sciences

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