PMID 15798777 2005 Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype--phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex.
PMID 21309039 2011 Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex.
PMID 22867869 2013 Central TSC2 missense mutations are associated with a reduced risk of infantile spasms.
rs45517412 in
PKD1;TSC2 gene and
TUBEROUS SCLEROSIS 2 (disorder)
PMID 21309039 2011 Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex.
PMID 20165957 2010 Ultra deep sequencing detects a low rate of mosaic mutations in tuberous sclerosis complex.
PMID 27174333 2016 Comparison of Color Fundus Photography, Infrared Fundus Photography, and Optical Coherence Tomography in Detecting Retinal Hamartoma in Patients with Tuberous Sclerosis Complex.
PMID 21510812 2011 High-resolution melting analysis is a more effective approach for screening TSC genes mutations.
PMID 16114042 2005 Analysis of 65 tuberous sclerosis complex (TSC) patients by TSC2 DGGE, TSC1/TSC2 MLPA, and TSC1 long-range PCR sequencing, and report of 28 novel mutations.
PMID 23955302 2013 A tuberous sclerosis complex signalling node at the peroxisome regulates mTORC1 and autophagy in response to ROS.
PMID 16981987 2006 Molecular and clinical analyses of 84 patients with tuberous sclerosis complex.
PMID 12111193 2002 TSC1 and TSC2 mutations in tuberous sclerosis, the associated phenotypes and a model to explain observed TSC1/ TSC2 frequency ratios.
PMID 22867869 2013 Central TSC2 missense mutations are associated with a reduced risk of infantile spasms.
PMID 10732801 1998 Mutation and polymorphism analysis in the tuberous sclerosis 2 (TSC2) gene.
PMID 18854862 2009 A reliable cell-based assay for testing unclassified TSC2 gene variants.