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Biallelic EPB41L3 variants underlie a developmental disorder with seizures and myelination defects

  • Elizabeth A. Werren
  • , Guillermo Rodriguez Bey
  • , Purvi Majethia
  • , Parneet Kaur
  • , Siddaramappa J. Patil
  • , Minal V. Kekatpure
  • , Alexandra Afenjar
  • , Leila Qebibo
  • , Lydie Burglen
  • , Hoda Tomoum
  • , Florence Demurger
  • , Christele Duborg
  • , Shahyan Siddiqui
  • , Yao Chang Tsan
  • , Uzma Abdullah
  • , Zafar Ali
  • , Saadia Maryam Saadi
  • , Shahid Mahmood Baig
  • , Henry Houlden
  • , Reza Maroofian
    • Quasar Saleem Padiath*, Stephanie L. Bielas*, Anju Shukla*
*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

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Biochemistry, Genetics and Molecular Biology