Varaico: Literature-Extracted Genetic Variants

Gene:CCM2
Variant:p.Y118_N119insFs
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CCM2

NM_031443.4:p.Y118_N119insFs

Associated Papers

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."