Varaico: Literature-Extracted Genetic Variants

Gene:CCM2
Variant:p.V120D
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CCM2

NM_031443.4:p.V120D

Associated Papers

In-silico analysis of nonsynonymous genomic variants within CCM2 gene reaffirm the existence of dual cores within typical PTB domain.

Padarti A et al.

Biochemistry and Biophysics Reports, 2022

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

Ishii K et al.

Medicine, 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."