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A splice variant in ATAD3A expands the clinical and genetic spectrum of Harel-Yoon syndrome.
Ilana Hanes
Hugh J Mcmillan
Yoko Ito
Kristin D Kernohan
Joanna Lazier
Matthew A Lines
David A Dyment
Published in:
Neurology. Genetics (2020)
Keyphrases
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genome wide
case report
gene expression