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Gain-of-function and loss-of-function GABRB3 variants lead to distinct clinical phenotypes in patients with developmental and epileptic encephalopathies

  • Nathan L Absalom
  • , Vivian W Y Liao
  • , Katrine M H Johannesen
  • , Elena Gardella
  • , Julia Jacobs
  • , Gaetan Lesca
  • , Zeynep Gokce-Samar
  • , Alexis Arzimanoglou
  • , Shimriet Zeidler
  • , Pasquale Striano
  • , Pierre Meyer
  • , Ira Benkel-Herrenbrueck
  • , Inger-Lise Mero
  • , Jutta Rummel
  • , Mary Chebib
  • , Rikke S Møller
  • , Philip K Ahring
73 Citationer (Scopus)

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Neuroscience

Biochemistry, Genetics and Molecular Biology