Konrad Jan Karczewski, Ph.D.
This page shows the publications Konrad Karczewski has written about Proteins.
Characterising the loss-of-function impact of 5' untranslated region variants in 15,708 individuals. Nat Commun. 2020 05 27; 11(1):2523.
Quantifying unobserved protein-coding variants in human populations provides a roadmap for large-scale sequencing projects. Nat Commun. 2016 10 31; 7:13293.
Human genomics. Effect of predicted protein-truncating genetic variants on the human transcriptome. Science. 2015 May 08; 348(6235):666-9.
Quantifying the Impact of Rare and Ultra-rare Coding Variation across the Phenotypic Spectrum. Am J Hum Genet. 2018 06 07; 102(6):1204-1211.
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