The intellectual disability ‐associated CAMK2G p.Arg292Pro mutation acts as a pathogenic gain‐of‐function

Human Mutation,Volume 0, Issue ja, -Not available-.

Source: Human Mutation - September 5, 2018 Category: Genetics & Stem Cells Authors: Martina ProiettiOnori , BalwinaKoopal , David B.Everman , Jessica D.Worthington , Julie R.Jones , Melissa A.Ploeg , EdwinMientjes , Bregje W.van Bon , TjitskeKleefstra , HowardSchulman , Steven A.Kushner , S ébastienKüry , YpeEl Source Type: research