A Novel splice-site mutation on the MLC1 gene leading to exon 9 skipping and megalencephalic leukoencephalopathy with subcortical cysts in a Turkish patient by Türkyılmaz A, Ünver O, Ekinci G, Türkdoğan D

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Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populations by Chundru, VK, Zhang, Z, Walter, K, Lindsay, SJ, Danecek, P, Eberhardt, RY, Gardner, EJ, Malawsky, DS, Wigdor, EM, Torene, R, Retterer, K, Wright, CF, Ólafsdóttir, H, Guillen Sacoto, MJ, Ayaz, A, Akbeyaz, IH, Türkdoğan, D, Al Balushi, AI, Bertoli-Avella, A, Bauer, P, Szenker-Ravi, E, Reversade, B, McWalter, K, Sheridan, E