Condition: CEREBRAL CAVERNOUS MALFORMATIONS 2
rs1331484727 in
CCM2 gene and
CEREBRAL CAVERNOUS MALFORMATIONS 2
PMID 14740320 2004 Mutations within the MGC4607 gene cause cerebral cavernous malformations.
PMID 14624391 2003 Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations.
PMID 22415356 2012 De novo MGC4607 gene heterozygous missense variants in a child with multiple cerebral cavernous malformations.
PMID 25355838 2014 Guidelines for the primary prevention of stroke: a statement for healthcare professionals from the American Heart Association/American Stroke Association.
PMID 20298421 2010 EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.
PMID 27792856 2017 Review of familial cerebral cavernous malformations and report of seven additional families.
PMID 23595507 2013 CCM molecular screening in a diagnosis context: novel unclassified variants leading to abnormal splicing and importance of large deletions.
PMID 24466005 2014 Mutation prevalence of cerebral cavernous malformation genes in Spanish patients.
PMID 15122722 2004 CCM2 mutations account for 13% of cases in a large collection of kindreds with hereditary cavernous malformations.
rs1562848479 in
LOC102723334;CCM2 gene and
CEREBRAL CAVERNOUS MALFORMATIONS 2
PMID 18300272 2008 Novel CCM1, CCM2, and CCM3 mutations in patients with cerebral cavernous malformations: in-frame deletion in CCM2 prevents formation of a CCM1/CCM2/CCM3 protein complex.
PMID 15122722 2004 CCM2 mutations account for 13% of cases in a large collection of kindreds with hereditary cavernous malformations.
PMID 17160895 2007 Deletions in CCM2 are a common cause of cerebral cavernous malformations.
PMID 2468908 1988 Verapamil alters the relationship between renal perfusion pressure and glomerular filtration rate and renin release: the mechanism of the antihypertensive effect.
PMID 14624391 2003 Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations.
PMID 21543988 2011 A founder mutation in the Ashkenazi Jewish population affecting messenger RNA splicing of the CCM2 gene causes cerebral cavernous malformations.
PMID 23595507 2013 CCM molecular screening in a diagnosis context: novel unclassified variants leading to abnormal splicing and importance of large deletions.