Varaico: Literature-Extracted Genetic Variants

Gene:CLCN4
Variant:p.K62R
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CLCN4

NM_001830.4:p.K62R

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

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."