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 MaroofianQuasar Saleem Padiath, Stephanie L. Bielas, Anju Shukla

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Biochemistry, Genetics and Molecular Biology

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