Varaico: Literature-Extracted Genetic Variants

Gene:CCM2
Variant:p.F268Splc
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CCM2

NM_031443.4:p.F268Splc

Associated Papers

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

Scimone C et al.

Journal of Molecular Neuroscience : Mn, 2017

CCM molecular screening in a diagnosis context: novel unclassified variants leading to abnormal splicing and importance of large deletions.

Riant F et al.

Neurogenetics, 2013

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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."