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Evaluating drug targets through human loss-of-function genetic variation

Naturally occurring human genetic variants that are predicted to inactivate protein-coding genes provide an in vivo model of human gene inactivation that complements knockout studies in cells and model organisms. Here we report three key findings regarding the assessment of candidate drug targets us...

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發表在:Nature
Main Authors: Minikel, Eric Vallabh, Karczewski, Konrad J., Martin, Hilary C., Cummings, Beryl B., Whiffin, Nicola, Rhodes, Daniel, Alföldi, Jessica, Trembath, Richard C., van Heel, David A., Daly, Mark J., Schreiber, Stuart L., MacArthur, Daniel G.
格式: Artigo
語言:Inglês
出版: Nature Publishing Group UK 2020
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC7272226/
https://ncbi.nlm.nih.gov/pubmed/32461653
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41586-020-2267-z
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