Varaico: Literature-Extracted Genetic Variants

Gene:CCM2
Variant:p.Q159*
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CCM2

NM_031443.4:p.Q159*

Associated Papers

Prevalence, genetic and clinical characteristics in first-degree relatives of patients with familial cerebral cavernous malformations in China.

Li C et al.

Stroke and Vascular Neurology, 2025

38749536 (PubMed )
Supplement: svn-10-1-s001.pdf

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

Ishii K et al.

Medicine, 2020

Novel CCM1, CCM2, and CCM3 mutations in patients with cerebral cavernous malformations: in-frame deletion in CCM2 prevents formation of a CCM1/CCM2/CCM3 protein complex.

Stahl S et al.

Human Mutation, 2008

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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."