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SEIZURES AND INTELLECTUAL DISABILITY ASSOCIATED WITH TUBEROUS SCLEROSIS COMPLEX IN THE WEST OF SCOTLAND

✍ Scribed by C. W. Shepherd; J. B. P. Stephenson


Book ID
115266017
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
646 KB
Volume
34
Category
Article
ISSN
0012-1622

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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