The effect of LRRK2 loss-of-function variants in humans.
Nature Medicine
Whiffin, Nicola N; Armean, Irina M IM; Kleinman, Aaron A; Marshall, Jamie L JL; Minikel, Eric V EV; Goodrich, Julia K JK; Quaife, Nicholas M NM; Cole, Joanne B JB; Wang, Qingbo Q; Karczewski, Konrad J KJ; Cummings, Beryl B BB; Francioli, Laurent L; Laricchia, Kristen K; Guan, Anna A; Alipanahi, Babak B; Morrison, Peter P; Baptista, Marco A S MAS; Merchant, Kalpana M KM; , ; , ; Ware, James S JS; Havulinna, Aki S AS; Iliadou, Bozenna B; Lee, Jung-Jin JJ; Nadkarni, Girish N GN; Whiteman, Cole C; , ; Daly, Mark M; Esko, Tõnu T; Hultman, Christina C; Loos, Ruth J F RJF; Milani, Lili L; Palotie, Aarno A; Pato, Carlos C; Pato, Michele M; Saleheen, Danish D; Sullivan, Patrick F PF; Alföldi, Jessica J; Cannon, Paul P; MacArthur, Daniel G DG
Publication Date: 2020-06
Variant appearance in text: LRRK2: Cys1313Ter; rs183902574
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease.
Journal Of Visualized Experiments : Jove
Dilliott, Allison A AA; Farhan, Sali M K SMK; Ghani, Mahdi M; Sato, Christine C; Liang, Eric E; Zhang, Ming M; McIntyre, Adam D AD; Cao, Henian H; Racacho, Lemuel L; Robinson, John F JF; Strong, Michael J MJ; Masellis, Mario M; Bulman, Dennis E DE; Rogaeva, Ekaterina E; Lang, Anthony A; Tartaglia, Carmela C; Finger, Elizabeth E; Zinman, Lorne L; Turnbull, John J; Freedman, Morris M; Swartz, Rick R; Black, Sandra E SE; Hegele, Robert A RA