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
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
Aberrant splicing due to a silent nucleotide change in CCM2 gene in a family with cerebral cavernous malformation.
Tonelli A et al.
Clinical Genetics, 2009
Mutations within the MGC4607 gene cause cerebral cavernous malformations.
Denier C et al.
American Journal of Human Genetics, 2004
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