Varaico: Literature-Extracted Genetic Variants

Gene:CCM2
Variant:p.S294N
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CCM2

NM_031443.4:p.S294N

Associated Papers

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

Ishii K et al.

Medicine, 2020

Sporadic cerebral cavernous malformations: report of further mutations of CCM genes in 40 Italian patients.

D'Angelo R et al.

Biomed Research International, 2013

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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."