Biallelic Variants in SLC4A10 Encoding a Sodium-Dependent Bicarbonate Transporter Lead to a Neurodevelopmental Disorder.
Reza Maroofian,Mina Zamani,Rauan Kaiyrzhanov,Lutz Liebmann,Ehsan Ghayoor Karimiani,Barbara Vona,Antje K. Huebner,Daniel G. Calame,Vinod K. Misra,Saeid Sadeghian,Reza Azizimalamiri,Mohammad Hasan Mohammadi,Jawaher Zeighami,Sogand Heydaran,Mehran Beiraghi Toosi,Javad Akhondian,Meisam Babaei,Narges Hashemi,Rhonda E. Schnur,Mohnish Suri, Jonas Setzke,Matias Wagner,Theresa Brunet,Christopher M. Grochowski,Lisa Emrick,Wendy K. Chung,Ute A. Hellmich,Miriam Schmidts,James R. Lupski,Hamid Galehdari,Mariasavina Severino,Henry Houlden,Christian A. Huebner GENETICS IN MEDICINE（2024）
Key words
Bicarbonate transporters,Intracellular pH dynamics,Neurodevelopmental disorders,Slit ventricles
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