Identification of a Novel Canonical Splice Site Variant TSC2 c.2967-1G>T That is Not Associated With Tuberous Sclerosis Pathogenesis

Tuberous sclerosis, also known as tuberous sclerosis complex (TSC), is an autosomal dominant defect characterized by hamartomas in multiple organ systems. Inactivating variants cause this defect in either the TSC1 gene or the TSC2 gene, leading to hamartin or tuberin protein dysfunction, thus result...

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Detalles Bibliográficos
Autores principales: Duan, Jing, Ye, Yuanzhen, Hu, Zhanqi, Zhao, Xia, Liao, Jianxiang, Chen, Li
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9184681/
https://www.ncbi.nlm.nih.gov/pubmed/35692821
http://dx.doi.org/10.3389/fgene.2022.904224

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9184681/
https://www.ncbi.nlm.nih.gov/pubmed/35692821
http://dx.doi.org/10.3389/fgene.2022.904224

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