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A splice variant in ATAD3A expands the clinical and genetic spectrum of Harel-Yoon syndrome.

Ilana HanesHugh J McmillanYoko ItoKristin D KernohanJoanna LazierMatthew A LinesDavid A Dyment
Published in: Neurology. Genetics (2020)
Keyphrases
  • genome wide
  • case report
  • gene expression