The effect of LRRK2 loss-of-function variants in humans

Human genetic variants predicted to cause loss-of-function of protein-coding genes (pLoF variants) provide natural in vivo models of human gene inactivation and can be valuable indicators of gene function and the potential toxicity of therapeutic inhibitors targeting these genes(1,2). Gain-of-kinase...

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Publicado en:Nat Med
Main Authors: Whiffin, Nicola, Armean, Irina M., Kleinman, Aaron, Marshall, Jamie L., Minikel, Eric V., Goodrich, Julia K., Quaife, Nicholas M., Cole, Joanne B., Wang, Qingbo, Karczewski, Konrad J., Cummings, Beryl B., Francioli, Laurent, Laricchia, Kristen, Guan, Anna, Alipanahi, Babak, Morrison, Peter, Baptista, Marco A. S., Merchant, Kalpana M., Ware, James S., Havulinna, Aki S., Iliadou, Bozenna, Lee, Jung-Jin, Nadkarni, Girish N., Whiteman, Cole, Daly, Mark, Esko, Tõnu, Hultman, Christina, Loos, Ruth J. F., Milani, Lili, Palotie, Aarno, Pato, Carlos, Pato, Michele, Saleheen, Danish, Sullivan, Patrick F., Alföldi, Jessica, Cannon, Paul, MacArthur, Daniel G.
Formato: Artigo
Idioma:Inglês
Publicado: Nature Publishing Group US 2020
Assuntos:
Letter
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC7303015/
https://ncbi.nlm.nih.gov/pubmed/32461697
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41591-020-0893-5
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