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 Brain a journal of neurology（2024）
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