Varaico: Literature-Extracted Genetic Variants

Gene:CCM2
Variant:p.L198P
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CCM2

NM_031443.4:p.L198P

Associated Papers

Novel CCM2 missense variants abrogating the CCM1-CCM2 interaction cause cerebral cavernous malformations.

Bergametti F et al.

Journal of Medical Genetics, 2020

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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."