Varaico: Literature-Extracted Genetic Variants

Gene:CCM2
Variant:p.R40C
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CCM2

NM_031443.4:p.R40C

Associated Papers

First Report of Concomitant Pathogenic Mutations Within MGC4607/CCM2 and KRIT1/CCM1 in a Familial Cerebral Cavernous Malformation Patient.

da Fontoura Galvão G et al.

World Neurosurgery, 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."