A novel TSC2 c.4511 T > C missense variant associated with tuberous sclerosis complex
Abstract Background Tuberous sclerosis complex (TSC) is an autosomal-dominant hereditary disease characterized by hamartomas of multiple organ systems, including the brain, skin, heart, kidney and lung. Genetically, TSC is caused by pathogenic variants in the TSC1 or TSC2 gene. Case presentation We...
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| Main Authors: | , , , , |
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| Format: | Book |
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BMC,
2020-09-01T00:00:00Z.
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