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Lack of association of rare functional variants inTSC1/TSC2genes with autism spectrum disorder

✍ Scribed by Samira Bahl, Colby Chiang, Roberta L Beauchamp, Benjamin M Neale…


Book ID
120717533
Publisher
BioMed Central
Year
2013
Tongue
English
Weight
374 KB
Volume
4
Category
Article
ISSN
2040-2392

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✍ Marianne Hoogeveen-Westerveld; Marjolein Wentink; Diana van den Heuvel; Melika M 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 370 KB

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