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Genotypic and Phenotypic Analysis of Korean Patients with Tuberous Sclerosis

2024-04-19

Abstract excerpt

<title>Abstract</title> <p>Tuberous sclerosis complex (TSC) is a rare autosomal dominant disorder caused by mutations in the <italic>TSC1</italic> or <italic>TSC2</italic> gene. The aim of this study was to analyze the genotypes and phenotypes of Korean patients diagnosed with TSC and expand our understanding of this disorder. This retrospective observational study included 331 patients clinically diagnosed with...

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Literature Corpus work: 56cfcd03-8690-56d1-bfba-1585c8e03347
DOI: 10.21203/rs.3.rs-4240279/v1

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