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Bi-allelic truncating variants in CASP2 underlie a neurodevelopmental disorder with lissencephaly

  • Eyyup Uctepe
  • , Barbara Vona
  • , Fatma Nisa Esen
  • , F Mujgan Sonmez
  • , Thomas Smol
  • , Sait Tümer
  • , Hanifenur Mancılar
  • , Dilan Ece Geylan Durgun
  • , Odile Boute
  • , Meysam Moghbeli
  • , Ehsan Ghayoor Karimiani
  • , Narges Hashemi
  • , Behnoosh Bakhshoodeh
  • , Hyung Goo Kim
  • , Reza Maroofian
  • , Ahmet Yesilyurt
  • Acibadem Ankara Tissue Typing Laboratory
  • University Medical Center Göttingen
  • Acibadem Labgen Genetic Diagnosis Center
  • Karadeniz Technical University
  • Institut de Génétique Médicale
  • Ultramar Medical Imaging Center
  • Clinique de Génétique
  • Mashhad University of Medical Sciences
  • University of London
  • University College London

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Biochemistry, Genetics and Molecular Biology

Neuroscience