Varaico: Literature-Extracted Genetic Variants

Gene:CLCN4
Variant:p.D15fs
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CLCN4

NM_001830.4:p.D15fs

Associated Papers

Role of voltage-gated chloride channels in epilepsy: current insights and future directions.

Ni MM et al.

Frontiers in Pharmacology, 2025

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.

Palmer EE et al.

Molecular Psychiatry, 2023

Novel variants in the CLCN4 gene associated with syndromic X-linked intellectual disability.

Li S et al.

Frontiers in Neurology, 2023

37789889 (PubMed )
Supplement: Table_1.XLSX › Supplementary_Table_3

The molecular and phenotypic spectrum of CLCN4-related epilepsy.

He H et al.

Epilepsia, 2021

De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females.

Palmer EE et al.

Molecular Psychiatry, 2018

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.

Hu H et al.

Molecular Psychiatry, 2016

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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."