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

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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Bibliographic Details
Main Authors: Jing Duan, Yuanzhen Ye, Zhanqi Hu, Xia Zhao, Jianxiang Liao, Li Chen
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-05-01
Series:Frontiers in Genetics
Subjects:
TSC2
alternative splicing
tuberous sclerosis
c.2967-1G>T
splicing variant
NAGNAG acceptor
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2022.904224/full

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https://www.frontiersin.org/articles/10.3389/fgene.2022.904224/full

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