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focal cortical dysplasia
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Cancer Gene Census
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TSC1
Somatic tumors
renal cell carcinoma, bladder carcinoma
Tumor types germline
hamartoma, renal cell carcinoma, tuberous sclerosis tuber
Cancer Syndrom
Tuberous sclerosis 1
Translocation partner
Name
tuberous sclerosis 1 gene
Chromosome banding
9q34
Cancer molecular gen.
Rec
Mutation type
D, Mis, N, F, S
Other syndrome disease
Definition
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Pathways
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PubMed Links
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TSC1
Phosphatidylinositol 3-kinase/Akt pathway regulates tuberous sclerosis tumor suppressor complex by phosphorylation of tuberin
Pathological mutations in TSC1 and TSC2 disrupt the interaction between hamartin and tuberin
Tuberin phosphorylation regulates its interaction with hamartin. Two proteins involved in tuberous sclerosis
Clinical Trials
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