Varaico: Literature-Extracted Genetic Variants

Gene:CCM2
Variant:p.K10_P11Splc
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CCM2

NM_031443.4:p.K10_P11Splc

Associated Papers

Familial Cerebral Cavernous Malformations: Pathophysiology, Genetics, Biomarkers, and Treatment Perspectives.

Fontes-Dantas FL et al.

Journal of Neurochemistry, 2026

Familial cerebral cavernous malformation presenting with epilepsy caused by mutation in the CCM2 gene: A case report.

Ishii K et al.

Medicine, 2020

A two-hit mechanism causes cerebral cavernous malformations: complete inactivation of CCM1, CCM2 or CCM3 in affected endothelial cells.

Pagenstecher A et al.

Human Molecular Genetics, 2009

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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."