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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
Christina Fitzmaurice, Christine A. Allen, Ryan M Barber et al. · JAMA Oncology · 2016 · 6.3K citations · Full text
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