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Identification of Functional Elements in the Bidirectional Promoter of the Mouse Nthl1 and Tsc2 Genes

โœ Scribed by Shogo Ikeda; Aiki Mochizuki; Altaf H. Sarker; Shuji Seki


Book ID
115586155
Publisher
Elsevier Science
Year
2000
Tongue
English
Weight
172 KB
Volume
273
Category
Article
ISSN
0006-291X

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Functional assessment of variants in the
โœ Marianne Hoogeveen-Westerveld; Marjolein Wentink; Diana van den Heuvel; Melika M ๐Ÿ“‚ Article ๐Ÿ“… 2011 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 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