Condition: Heart Diseases
rs121918460 in
PTPN11 gene and
Heart Diseases
PMID 16358218 2006 Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease.
PMID 11992261 2002 PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.
PMID 22711529 2012 Counteracting effects operating on Src homology 2 domain-containing protein-tyrosine phosphatase 2 (SHP2) function drive selection of the recurrent Y62D and Y63C substitutions in Noonan syndrome.