PMID 10732801 1998 Mutation and polymorphism analysis in the tuberous sclerosis 2 (TSC2) gene.
PMID 17304050 2007 Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States.
PMID 22867869 2013 Central TSC2 missense mutations are associated with a reduced risk of infantile spasms.
PMID 18854862 2009 A reliable cell-based assay for testing unclassified TSC2 gene variants.
PMID 16237225 2005 A case of solitary subependymal giant cell astrocytoma: two somatic hits of TSC2 in the tumor, without evidence of somatic mosaicism.
PMID 23519317 2013 Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.
PMID 27854360 2017 Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
PMID 23788249 2013 ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
PMID 25356965 2015 ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
PMID 20165957 2010 Ultra deep sequencing detects a low rate of mosaic mutations in tuberous sclerosis complex.
PMID 16981987 2006 Molecular and clinical analyses of 84 patients with tuberous sclerosis complex.
PMID 21309039 2011 Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex.
rs45507199 in
TSC2;PKD1 gene and
Tuberous Sclerosis
PMID 10732801 1998 Mutation and polymorphism analysis in the tuberous sclerosis 2 (TSC2) gene.
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 18854862 2009 A reliable cell-based assay for testing unclassified TSC2 gene variants.
PMID 16237225 2005 A case of solitary subependymal giant cell astrocytoma: two somatic hits of TSC2 in the tumor, without evidence of somatic mosaicism.
PMID 20165957 2010 Ultra deep sequencing detects a low rate of mosaic mutations 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 27406250 2016 Genotype and brain pathology phenotype in children with tuberous sclerosis complex.
PMID 22867869 2013 Central TSC2 missense mutations are associated with a reduced risk of infantile spasms.
PMID 16981987 2006 Molecular and clinical analyses of 84 patients with tuberous sclerosis complex.