Varaico: Literature-Extracted Genetic Variants

Gene:CCM2
Variant:p.K305K
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CCM2

NM_001029835.2:p.K305K

Associated Papers

Two Novel KRIT1 and CCM2 Mutations in Patients Affected by Cerebral Cavernous Malformations: New Information on CCM2 Penetrance.

Scimone C et al.

Frontiers in Neurology, 2018

Relevance of CCM gene polymorphisms for clinical management of sporadic cerebral cavernous malformations.

Rinaldi C et al.

Journal of the Neurological Sciences, 2017

Update on Novel CCM Gene Mutations in Patients with Cerebral Cavernous Malformations.

Scimone C et al.

Journal of Molecular Neuroscience : Mn, 2017

A Novel CCM2 Gene Mutation Associated with Familial Cerebral Cavernous Malformation.

Huang WQ et al.

Frontiers in Aging Neuroscience, 2016

Sporadic cerebral cavernous malformations: report of further mutations of CCM genes in 40 Italian patients.

D'Angelo R et al.

Biomed Research International, 2013

CCM2 gene polymorphisms in Italian sporadic patients with cerebral cavernous malformation: a case-control study.

D'Angelo R et al.

International Journal of Molecular Medicine, 2012

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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."