A novel Kleefstra syndrome-associated variant that affects the conserved TPLX motif within the ankyrin repeat of EHMT1 leads to abnormal protein folding

Patrick R. Blackburn, Alexander Tischer, Michael T. Zimmermann, Jennifer L. Kemppainen, Sujatha Sastry, Amy E. Knight Johnson, Margot A. Cousin, Nicole J. Boczek, Gavin Oliver, Vinod K. Misra, Ralitza H. Gavrilova, Gwen Lomberk, Matthew Auton, Raul Urrutia, Eric W. Klee

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Medicine & Life Sciences

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