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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group US 2020
Materias:
Letter
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7303015/
https://www.ncbi.nlm.nih.gov/pubmed/32461697
http://dx.doi.org/10.1038/s41591-020-0893-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7303015/
https://www.ncbi.nlm.nih.gov/pubmed/32461697
http://dx.doi.org/10.1038/s41591-020-0893-5

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