Chrome Extension
WeChat Mini Program
Use on ChatGLM
VIPCreated with Sketch.

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 0|Views34
Key words
Co-transporter,Lysosome,Neurodevelopmental disorder,Osmoregulation
AI Read Science
Must-Reading Tree
Example
Generate MRT to find the research sequence of this paper
Chat Paper
Summary is being generated by the instructions you defined