Varaico: Literature-Extracted Genetic Variants

Gene:CLCN6
Variant:p.T628R
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CLCN6

NM_001286.5:p.T628R

Associated Papers

Biophysical Aspects of Neurodegenerative and Neurodevelopmental Disorders Involving Endo-/Lysosomal CLC Cl-/H+ Antiporters.

Coppola MA et al.

Life (basel, Switzerland), 2023

Vesicular CLC chloride/proton exchangers in health and diseases.

Picollo A

Frontiers in Pharmacology, 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

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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."