Articles with "clcn4 variants" as a keyword



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Functional Characterization of CLCN4 Variants Associated With X-Linked Intellectual Disability and Epilepsy

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Published in 2022 at "Frontiers in Molecular Neuroscience"

DOI: 10.3389/fnmol.2022.872407

Abstract: Early/late endosomes, recycling endosomes, and lysosomes together form the endo-lysosomal recycling pathway. This system plays a crucial role in cell differentiation and survival, and dysregulation of the endo-lysosomal system appears to be important in the… read more here.

Keywords: intellectual disability; disability epilepsy; linked intellectual; clcn4 variants ... See more keywords