Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder
编码钠依赖性碳酸氢盐转运蛋白的SLC4A10基因的双等位基因变异会导致神经发育障碍
期刊:Genetics in Medicine
影响因子:6.2
doi:10.1016/j.gim.2023.101034
Maroofian, Reza; Zamani, Mina; Kaiyrzhanov, Rauan; Liebmann, Lutz; Karimiani, Ehsan Ghayoor; Vona, Barbara; Huebner, Antje K; Calame, Daniel G; Misra, Vinod K; Sadeghian, Saeid; Azizimalamiri, Reza; Mohammadi, Mohammad Hasan; Zeighami, Jawaher; Heydaran, Sogand; Toosi, Mehran Beiraghi; Akhondian, Javad; Babaei, Meisam; Hashemi, Narges; Schnur, Rhonda E; Suri, Mohnish; Setzke, Jonas; Wagner, Matias; Brunet, Theresa; Grochowski, Christopher M; Emrick, Lisa; Chung, Wendy K; Hellmich, Ute A; Schmidts, Miriam; Lupski, James R; Galehdari, Hamid; Severino, Mariasavina; Houlden, Henry; Hübner, Christian A
