The TSC2 c.2742+5G>A variant causes variable splicing changes and clinical manifestations in a family with tuberous sclerosis complex

BACKGROUND: Tuberous sclerosis complex (TSC) is a genetic, variably expressed, multisystem disease characterized by benign tumors. It is caused by pathogenic variants of the TSC complex subunit 1 gene (TSC1) and the TSC complex subunit 2 gene (TSC2). Genetic testing allows for early diagnosis, genet...

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Detalles Bibliográficos
Autores principales: Fan, Kuan, Guo, Yi, Song, Zhi, Yuan, Lamei, Zheng, Wen, Hu, Xiao, Gong, Lina, Deng, Hao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Molecular Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10157042/
https://www.ncbi.nlm.nih.gov/pubmed/37152430
http://dx.doi.org/10.3389/fnmol.2023.1091323

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10157042/
https://www.ncbi.nlm.nih.gov/pubmed/37152430
http://dx.doi.org/10.3389/fnmol.2023.1091323

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