Varaico: Literature-Extracted Genetic Variants

Gene:CLCN6
Variant:p.E267A
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CLCN6

NM_001286.5:p.E267A

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

Molecular basis of ClC-6 function and its impairment in human disease.

Zhang B et al.

Science Advances, 2023

Altered voltage-dependence of slowly activating chloride-proton antiport by late endosomal ClC-6 explains distinct neurological disorders.

Zifarelli G et al.

The Journal of Physiology, 2022

ClC Channels and Transporters: Structure, Physiological Functions, and Implications in Human Chloride Channelopathies.

Poroca DR et al.

Frontiers in Pharmacology, 2017

The late endosomal ClC-6 mediates proton/chloride countertransport in heterologous plasma membrane expression.

Neagoe I et al.

The Journal of Biological Chemistry, 2010

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."