Biallelic EPB41L3 variants underlie a developmental disorder with seizures and myelination defects.
双等位基因 EPB41L3 变异会导致一种发育障碍，伴有癫痫发作和髓鞘形成缺陷
期刊:Brain
影响因子:11.7
doi:10.1093/brain/awae299
Werren Elizabeth A, Rodriguez Bey Guillermo, Majethia Purvi, Kaur Parneet, Patil Siddaramappa J, Kekatpure Minal V, Afenjar Alexandra, Qebibo Leila, Burglen Lydie, Tomoum Hoda, Demurger Florence, Duborg Christele, Siddiqui Shahyan, Tsan Yao-Chang, Abdullah Uzma, Ali Zafar, Saadi Saadia Maryam, Baig Shahid Mahmood, Houlden Henry, Maroofian Reza, Padiath Quasar Saleem, Bielas Stephanie L, Shukla Anju
