Varaico: Literature-Extracted Genetic Variants

Gene:CCM2
Variant:p.P165_S166insFs
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CCM2

NM_031443.4:p.P165_S166insFs

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

Mutations within the MGC4607 gene cause cerebral cavernous malformations.

Denier C et al.

American Journal of Human Genetics, 2004

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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."