De Novo Truncating Variants in the Last Exon of SEMA6B Cause Progressive Myoclonic Epilepsy.
Hamanaka K, Imagawa E, Koshimizu E, Miyatake S, Tohyama J, Yamagata T, Miyauchi A, Ekhilevitch N, Nakamura F, Kawashima T, Goshima Y, Mohamed AR, Ch'ng GS, Fujita A, Azuma Y, Yasuda K, Imamura S, Nakashima M, Saitsu H, Mitsuhashi S, Mizuguchi T, Takata A, Miyake N, Matsumoto N.
Hamanaka K, et al. Among authors: mohamed ar.
Am J Hum Genet. 2020 Apr 2;106(4):549-558. doi: 10.1016/j.ajhg.2020.02.011. Epub 2020 Mar 12.
Am J Hum Genet. 2020.
PMID: 32169168
Free PMC article.