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1 Ergebnisse
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The mutational constraint spectrum quantified from variatio..:
Karczewski, KJ
;
Francioli, LC
;
Tiao, G
...
Nature. , 2020
Link:
http://hdl.handle.net/10044/1/79060
RT Journal T1
The mutational constraint spectrum quantified from variation in 141,456 humans
UL https://suche.suub.uni-bremen.de/peid=base-ftimperialcol:oai:spiral.imperial.ac.uk:10044_1_79060&Exemplar=1&LAN=DE A1 Karczewski, KJ A1 Francioli, LC A1 Tiao, G A1 Cummings, BB A1 Alföldi, J A1 Wang, Q A1 Collins, RL A1 Laricchia, KM A1 Ganna, A A1 Birnbaum, DP A1 Gauthier, LD A1 Brand, H A1 Solomonson, M A1 Watts, NA A1 Rhodes, D A1 Singer-Berk, M A1 England, EM A1 Seaby, EG A1 Kosmicki, JA A1 Walters, RK A1 Tashman, K A1 Farjoun, Y A1 Banks, E A1 Poterba, T A1 Wang, A A1 Seed, C A1 Whiffin, N A1 Chong, JX A1 Samocha, KE A1 Pierce-Hoffman, E A1 Zappala, Z A1 O'Donnell-Luria, AH A1 Vallabh Minikel, E A1 Weisburd, B A1 Lek, M A1 Ware, JS A1 Vittal, C A1 Armean, IM A1 Bergelson, L A1 Cibulskis, K A1 Connolly, JM A1 Covarrubias, M A1 Donnelly, S A1 Ferriera, S A1 Gabriel, S A1 Gentry, J A1 Gupta, N A1 Jeandet, T A1 Kaplan, D A1 Llanwarne, C A1 Munshi, J A1 Novod, S A1 Petrillo, N A1 Roazen, D A1 Ruano-Rubio, V A1 Saltzman, A A1 Schleicher, M A1 Soto, J A1 Tibbetts, K A1 Tolonen, C A1 Wade, G A1 Talkowski, ME A1 Genome Aggregation Database (gnomAD) Consortium A1 Neale, BM A1 Daly, MJ A1 MacArthur, DG PB Nature Research YR 2020 K1 Science & Technology K1 Multidisciplinary Sciences K1 Science & Technology - Other Topics K1 DE-NOVO MUTATIONS K1 VARIANTS K1 BURDEN K1 MODEL K1 Adult K1 Brain K1 Cardiovascular Diseases K1 Cohort Studies K1 Databases K1 Genetic K1 Exome K1 Female K1 Genes K1 Essential K1 Genetic Predisposition to Disease K1 Genetic Variation K1 Genome K1 Human K1 Genome-Wide Association Study K1 Humans K1 Loss of Function Mutation K1 Male K1 Mutation Rate K1 Proprotein Convertase 9 K1 RNA K1 Messenger K1 Reproducibility of Results K1 Whole Exome Sequencing K1 Whole Genome Sequencing K1 Genome Aggregation Database Consortium JF Nature LK http://hdl.handle.net/10044/1/79060 DO http://hdl.handle.net/10044/1/79060 SF ELIB - SuUB Bremen
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