Biallelic <i>EPB41L3</i> variants underlie a developmental disorder with seizures and myelination defects
Elizabeth A. Werren(Jackson Laboratory), Anju Shukla(Manipal Academy of Higher Education), Florence Démurger(Centre hospitalier Bretagne Atlantique), Hoda Tomoum(Ain Shams University), Stephanie Bielas(University of Michigan), Parneet Kaur(Manipal Academy of Higher Education), Yao-Chang Tsan(University of Michigan), Purvi Majethia(Manipal Academy of Higher Education), Lydie Bürglen(Sorbonne Université), Quasar Saleem Padiath(University of Pittsburgh), Shahid Mahmood Baig(National Institute for Biotechnology and Genetic Engineering), Uzma Abdullah(Pir Mehr Ali Shah Arid Agriculture University), Zafar Ali(University of Swat), Guillermo Rodríguez Bey(University of Pittsburgh), Henry Houlden(Queen Mary University of London), Reza Maroofian(University College London), Saadia Maryam Saadi(National Institute for Biotechnology and Genetic Engineering), Shahyan Siddiqui(Yashoda Hospital), Christele Duborg(Hôpital Nord), Alexandra Afenjar(Sorbonne Université), Leila Qebibo(Sorbonne Université), Minal Kekatpure(Narayana Health), Siddaramappa J. Patil(Narayana Health)
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