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Karczewski KJ et al., Nature 2020
URI:
https://gptkb.org/entity/Karczewski_KJ_et_al.,_Nature_2020
GPTKB entity
Statements (35)
Predicate
Object
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gptkbp:doi
10.1038/s41586-020-2308-7
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gptkb:Nature
https://www.w3.org/2000/01/rdf-schema#label
Karczewski KJ et al., Nature 2020
gptkbp:main_finding
Identified genes intolerant to loss-of-function variants
Provided a resource for interpreting human genetic variation
Updated the gnomAD database
Quantified mutational constraint spectrum using variation in 141,456 humans
gptkbp:pages
434-443
gptkbp:publicationYear
2020
gptkbp:sample_size
141,456 humans
gptkbp:subjectArea
genomics
human genetics
mutation constraint
gptkbp:title
The mutational constraint spectrum quantified from variation in 141,456 humans
gptkbp:volume
581
gptkbp:bfsParent
gptkb:Genome_Aggregation_Database_(gnomAD)
gptkbp:bfsLayer
4