A potential gain-of-function variant of SLC9A6 leads to endosomal alkalinization and neuronal atrophy associated with Christianson Syndrome.

Ilie A, Gao AYL, Boucher A, Park J, Berghuis AM, Hoffer MJV, Hilhorst-Hofstee Y, McKinney RA, Orlowski J
Neurobiol Dis. 2019 Jan;121:187-204. doi: 10.1016/j.nbd.2018.10.002. Epub 2018 Oct 5. PubMed Article

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