Varaico: Literature-Extracted Genetic Variants

Gene:CLDN5
Variant:p.N39S
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CLDN5

NM_001363066.2:p.N39S

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

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

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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."