Evaluating drug targets through human loss-of-function genetic variation

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Location: Deutsche Nationalbibliothek Frankfurt am Main

Extent: 1 Online-Ressource.

Language: Englisch

Bibliographic citation: Evaluating drug targets through human loss-of-function genetic variation ; volume:581 ; number:7809 ; day:27 ; month:5 ; year:2020 ; pages:459-464 ; date:5.2020
Nature ; 581, Heft 7809 (27.5.2020), 459-464, 5.2020

Creator: Minikel, Eric Vallabh
Karczewski, Konrad J.
Martin, Hilary C.
Cummings, Beryl B.
Whiffin, Nicola
Rhodes, Daniel
Alföldi, Jessica
Trembath, Richard C.
Heel, David A. van
Daly, Mark J.
Schreiber, Stuart L.
MacArthur, Daniel G.

Contributor: SpringerLink (Online service)

DOI: 10.1038/s41586-020-2267-z

URN: urn:nbn:de:101:1-2502132211050.457452462745

Rights: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 15.08.2025, 7:38 AM CEST

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Minikel, Eric Vallabh
Karczewski, Konrad J.
Martin, Hilary C.
Cummings, Beryl B.
Whiffin, Nicola
Rhodes, Daniel
Alföldi, Jessica
Trembath, Richard C.
Heel, David A. van
Daly, Mark J.
Schreiber, Stuart L.
MacArthur, Daniel G.
SpringerLink (Online service)

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Evaluating drug targets through human loss-of-function genetic variation

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Other Objects (12)

Loss-of-function genetic diseases and the concept of pharmaceutical targets

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Loss-of-function phenotype of a PKCθT219A knockin mouse strain

Broad network-based predictability of Saccharomyces cerevisiaegene loss-of-function phenotypes

Loss-of-function of leptin receptor impairs metabolism in human cardiomyocytes

Adaptive selection drives TRPP3 loss-of-function in an Ethiopian population

Frequent gain- and loss-of-function mutations of the BjMYB113 gene accounted for leaf color variation in Brassica juncea

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Loss-of-function phenotype of a PKCθT219A knockin mouse strain

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Loss-of-function of leptin receptor impairs metabolism in human cardiomyocytes

Adaptive selection drives TRPP3 loss-of-function in an Ethiopian population

Frequent gain- and loss-of-function mutations of the BjMYB113 gene accounted for leaf color variation in Brassica juncea

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Loss-of-function genomic variants highlight potential therapeutic targets for cardiovascular disease

Target genes of myostatin loss-of-function in muscles of late bovine fetuses

Loss-of-function uORF mutations in human malignancies

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Broad network-based predictability of Saccharomyces cerevisiaegene loss-of-function phenotypes

Loss-of-function of leptin receptor impairs metabolism in human cardiomyocytes

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