Associated Papers
Endosomal chloride/proton exchangers need inhibitory TMEM9 β-subunits for regulation and prevention of disease-causing overactivity.
Planells-Cases R et al.
Nature Communications, 2025
De novo CLCN3 variants affecting Gly327 cause severe neurodevelopmental syndrome with brain structural abnormalities.
Nakashima M et al.
Journal of Human Genetics, 2023
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