Varaico: Literature-Extracted Genetic Variants

Gene:CLCN4
Variant:p.E281A
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CLCN4

NM_001830.4:p.E281A

Associated Papers

Dominant Action of CLCN4 Neurodevelopmental Disease Variants in Heteromeric Endosomal ClC-3/ClC-4 Transporters.

Tettey-Matey A et al.

Cells, 2025

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

Determinants of anion-proton coupling in mammalian endosomal CLC proteins.

Zdebik AA et al.

The Journal of Biological Chemistry, 2008

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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."