Varaico: Literature-Extracted Genetic Variants

Gene:CLDN5
Variant:p.G60R
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CLDN5

NM_001363066.2:p.G60R

Associated Papers

Genetic Mutations in Cell Junction Proteins Associated with Brain Calcification.

Yang D et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2025

[A case of epilepsy and intracranial calcification caused by a variant of CLDN5 gene].

Yi Z et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2024

De novo mutations in CLDN5: alternating hemiplegia of childhood or not?

Panagiotakaki E et al.

Brain : a Journal of Neurology, 2023

Reply: De novo mutations in CLDN5: alternating hemiplegia of childhood or not?

Desguerre I et al.

Brain : a Journal of Neurology, 2023

Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications.

Deshwar AR et al.

Brain : a Journal of Neurology, 2023

The CLDN5 gene at the blood-brain barrier in health and disease.

Hashimoto Y et al.

Fluids and Barriers of the Cns, 2023

The impact of pathogenic and artificial mutations on Claudin-5 selectivity from molecular dynamics simulations.

Berselli A et al.

Computational and Structural Biotechnology Journal, 2023

Recurrent de novo mutations in CLDN5 induce an anion-selective blood-brain barrier and alternating hemiplegia.

Hashimoto Y et al.

Brain : a Journal of Neurology, 2022

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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."