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Biallelic Loss-of-function Variants of SLC12A9 Cause Lysosome Dysfunction and a Syndromic Neurodevelopmental Disorder.

Andrea Accogli,Young N. Park,Guy M. Lenk,Mariasavina Severino,Marcello Scala,Jonas Denecke,Maja Hempel,Davor Lessel,Fanny Kortuem,Vincenzo Salpietro,Patrizia de Marco,Sara Guerrisi,Annalaura Torella,Vincenzo Nigro,Myriam Srour,Ernest Turro,Veerle Labarque,Kathleen Freson,Gianluca Piatelli,Valeria Capra,Jacob O. Kitzman,Miriam H. Meisler

Genetics in Medicine（2024）

Cited 3|Views36
Key words
Co-transporter,Lysosome,Neurodevelopmental disorder,Osmoregulation
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