Varaico: Literature-Extracted Genetic Variants

Gene:CCM2
Variant:p.T305_L306Splc
Back to variants list

CCM2

NM_031443.4:p.T305_L306Splc

Associated Papers

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

Ishii K et al.

Medicine, 2020

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

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

Scimone C et al.

Journal of Molecular Neuroscience : Mn, 2017

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."