Varaico: Literature-Extracted Genetic Variants

Gene:CLCN4
Variant:p.I549L
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CLCN4

NM_001830.4:p.I549L

Associated Papers

Clinical features and genetic analysis of epilepsy caused by CLCN4 gene mutation: a case report and literature review.

Mao DD et al.

Translational Pediatrics, 2025

40800199 (PubMed )
Supplement: tp-14-07-1717-supplementary.pdf

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

Ni MM et al.

Frontiers in Pharmacology, 2025

Genotype-phenotype correlation in CLCN4-related developmental and epileptic encephalopathy.

Sahly AN et al.

Human Genetics, 2024

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: Data_Sheet_1.PDF
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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."