Article
Variants Within TSC2 Exons 25 and 31 Are Very Unlikely to Cause Clinically Diagnosable Tuberous Sclerosis.
Human mutation - 1 Apr 2016
Ekong Rosemary, Nellist Mark, Hoogeveen-Westerveld Marianne, Wentink Marjolein, Panzer Jessica, Sparagana Steven, Emmett Warren, Dawson Natalie L, Malinge Marie Claire, Nabbout Rima, Carbonara Caterina, Barberis Marco, Padovan Sergio, Futema Marta, Plagnol Vincent, Humphries Steve E, Migone Nicola, Povey Sue
Abstract excerpt
Inactivating mutations in TSC1 and TSC2 cause tuberous sclerosis complex (TSC). The 2012 international consensus meeting on TSC diagnosis and management agreed that the identification of a pathogenic TSC1 or TSC2 variant establishes a diagnosis of TSC, even in the absence of clinical signs. However, exons 25 and 31 of TSC2 are subject to alternative splicing. No variants causing clinically diagnosed TSC have been...
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