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Identification of a novel heterozygous TSC2 splicing variant in a patient with Tuberous sclerosis complex: A case report

RATIONALE: Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder characterized by facial angiofibromas, epilepsy, intellectual disability, and the development of hamartomas in several organs, including the heart, kidneys, brain, and lungs. Mutations in either TSC1 or TSC2 result...

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Detalles Bibliográficos
Autores principales:	Liu, Linli, Yu, Chunshui, Yan, Gaowu
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Lippincott Williams & Wilkins 2022
Materias:	3500
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8772658/ https://www.ncbi.nlm.nih.gov/pubmed/35060563 http://dx.doi.org/10.1097/MD.0000000000028666

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