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Journal Article
Nature Communications, ISSN 2041-1723, 06/2017, Volume 8, Issue 1, pp. 15816 - 15816
Journal Article
Journal Article
Oncogene, ISSN 0950-9232, 11/2018, Volume 37, Issue 45, pp. 5913 - 5925
Journal Article
Journal Article
B M C Medical Genetics, ISSN 1471-2350, 04/2008, Volume 9, Issue 1, pp. 10 - 10
textabstractBACKGROUND: Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterised by seizures, mental retardation and the development of... 
GENE | PHOSPHORYLATION | GENETICS & HEREDITY | COHORT | SPECTRUM | MODEL | MUTATIONAL ANALYSIS | MTOR | HAMARTIN COMPLEX | Genetic Variation | DNA Mutational Analysis | Pedigree | Humans | Tumor Suppressor Proteins - genetics | Female | Male | Tuberous Sclerosis - genetics | Tuberous sclerosis | Research | Diagnosis | Genetic variation | Health aspects | Risk factors | Index Medicus
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 11/2018, Volume 128, Issue 11, pp. 4938 - 4955
Journal Article
Annual review of genomics and human genetics, ISSN 1527-8204, 8/2019, Volume 20, Issue 1, pp. 217 - 240
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that affects multiple organ systems due to an inactivating variant in either TSC1 or TSC2 ,... 
epilepsy | mTOR | genetics | tuberous sclerosis | rapamycin | Tuberous sclerosis | Medical colleges | Development and progression | Care and treatment | Diagnosis | Neurophysiology | Tuberous sclerosis 2 protein | TOR protein | Mental disorders | Epilepsy | Phenotypic variations | Hamartin | Rapamycin | Neurodevelopmental disorders | TSC1 protein | Morbidity | Sclerosis | Hereditary diseases | TSC2 protein | Index Medicus
Journal Article