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A novel synonymous TSC2 mutation in a Chinese family leads to tuberous sclerosis type 2 by disrupting Normal pre-mRNA

Chuanjie Zhang1, Sijun Li2, Runling Leng3

  • 1Department of Children Health Care, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science & Technology, China.

Journal, Genetic Engineering & Biotechnology
|September 16, 2026
PubMed
Abstract

Keywords:
SplicingSynonymous mutationTSC2Tuberous sclerosis

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