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1.4K
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1–5 of 58
A global reference for human genetic variation
Richard Durbin, Peter Donnelly, Paul Flicek et al. · Nature · 2015 · 20K citations · Full text
Analysis of protein-coding genetic variation in 60,706 humans
Monkol Lek, Konrad J. Karczewski, Eric Vallabh Minikel et al. · Nature · 2016 · 10.3K citations · Full text
The mutational constraint spectrum quantified from variation in 141,456 humans
Konrad J. Karczewski, Laurent C. Francioli, Grace Tiao et al. · Nature · 2020 · 10.1K citations · Full text
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