Article
Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex.
Human mutation - 1 Apr 2011
Hoogeveen-Westerveld Marianne, Wentink Marjolein, van den Heuvel Diana, Mozaffari Melika, Ekong Rosemary, Povey Sue, den Dunnen Johan T, Metcalfe Kay, Vallee Stephanie, Krueger Stefan, Bergoffen JoAnn, Shashi Vandana, Elmslie Frances, Kwiatkowski David, Sampson Julian, Vidales Concha, Dzarir Jacinta, Garcia-Planells Javier, Dies Kira, Maat-Kievit Anneke, van den Ouweland Ans, Halley Dicky, Nellist Mark
Abstract excerpt
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 the variants affect protein function. We have used this strategy to characterize variants identified in the TSC1...
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