Condition: CARDIOFACIOCUTANEOUS SYNDROME 2
rs104894359 in
KRAS gene and
CARDIOFACIOCUTANEOUS SYNDROME 2
PMID 16474405 2006 Germline KRAS mutations cause Noonan syndrome.
PMID 17056636 2007 Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations.
PMID 16474404 2006 Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.
PMID 21797849 2012 Two novel germline KRAS mutations: expanding the molecular and clinical phenotype.
PMID 20949621 2011 Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders.
PMID 24803665 2014 Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.