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Alternative Splicing of the Tuberous Sclerosis 2 (TSC2) Gene in Human and Mouse Tissues

โœ Scribed by Lin Xu; Christopher Sterner; Magitha M. Maheshwar; Peter J. Wilson; Mark Nellist; Priscilla M. Short; Jonathan L. Haines; Julian R. Sampson; Vijaya Ramesh


Book ID
115612644
Publisher
Elsevier Science
Year
1995
Tongue
English
Weight
504 KB
Volume
27
Category
Article
ISSN
0888-7543

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The effects of missense changes and small in-frame deletions and insertions on protein function are not easy to predict, and the identification of such variants in individuals at risk of a genetic disease can complicate genetic counselling. One option is to perform functional tests to assess whether