Intratumoral heterogeneity for inactivating frameshift mutation of cux1 and sirt1 genes in gastric and colorectal cancers... We identified frameshift mutations of CUX1 in 4 cases of colorectal cancer (CRC) and of SIRT1 in 1 case of gastric cancer (GC) and 3 cases of CRC....
Variable phenotype expression with a frameshift mutation of the cardiac sodium channel gene scn5a ... This case report describes 2 unrelated probands carrying an identical SCN5A frameshift mutation, V1764fsX1786, who exhibited distinct clinical manifestations: progressive cardiac conduction defect (PCCD)/Brugada syndrome (patient #1) and idiopathic ventricular...
A novel wrn frameshift mutation identified by multiplex genetic testing in a family with multiple cases of cancer.... WRN frameshift mutation is considered a potential pathogenic variation according to the guidelines of the American College of Medical Genetics....
Variable phenotype expression with a frameshift mutation of the cardiac sodium channel gene scn5a... This case report describes 2 unrelated probands carrying an identical SCN5A frameshift mutation, V1764fsX1786, who exhibited distinct clinical manifestations: progressive cardiac conduction defect (PCCD)/Brugada syndrome (patient #1) and idiopathic ventricular...
