Varaico: Literature-Extracted Genetic Variants

Gene:CLCN4
Variant:p.E682K
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CLCN4

NM_001830.4:p.E682K

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

Clinical application of trio-based whole-exome sequencing in idiopathic generalized epilepsy.

Lin ZJ et al.

Seizure, 2024

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