Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Publication Date: 2019-02-07
Variant appearance in text: PNKD: A33P; rs121434513
The PNKD gene is associated with Tourette Disorder or Tic disorder in a multiplex family.
Molecular Psychiatry
Sun, N N; Nasello, C C; Deng, L L; Wang, N N; Zhang, Y Y; Xu, Z Z; Song, Z Z; Kwan, K K; King, R A RA; Pang, Z P ZP; Xing, J J; Heiman, G A GA; Tischfield, J A JA
The clinical and genetic heterogeneity of paroxysmal dyskinesias.
Brain : A Journal Of Neurology
Gardiner, Alice R AR; Jaffer, Fatima F; Dale, Russell C RC; Labrum, Robyn R; Erro, Roberto R; Meyer, Esther E; Xiromerisiou, Georgia G; Stamelou, Maria M; Walker, Matthew M; Kullmann, Dimitri D; Warner, Tom T; Jarman, Paul P; Hanna, Mike M; Kurian, Manju A MA; Bhatia, Kailash P KP; Houlden, Henry H