Associated Papers
Mutations in CLCN6 as a Novel Genetic Cause of Neuronal Ceroid Lipofuscinosis in Patients and a Murine Model.
He H et al.
Annals of Neurology, 2024
Gain-of-function variants in CLCN7 cause hypopigmentation and lysosomal storage disease.
Polovitskaya MM et al.
The Journal of Biological Chemistry, 2024
Molecular basis of ClC-6 function and its impairment in human disease.
Zhang B et al.
Science Advances, 2023
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