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

BackgroundTuberous 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, genetic...

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Principais autores: Kuan Fan, Yi Guo, Zhi Song, Lamei Yuan, Wen Zheng, Xiao Hu, Lina Gong, Hao Deng
Format: Artigo
Sprog:Inglês
Udgivet: Frontiers Media S.A. 2023-04-01
Serier:Frontiers in Molecular Neuroscience
Fag:
tuberous sclerosis complex
TSC2 gene
splicing variant
non-canonical splice site
alternative splicing
Online adgang:https://www.frontiersin.org/articles/10.3389/fnmol.2023.1091323/full
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