- Location
-
Deutsche Nationalbibliothek Frankfurt am Main
- Extent
-
1 Online-Ressource.
- Language
-
Englisch
- Bibliographic citation
-
Affinity-optimizing enhancer variants disrupt development ; volume:626 ; number:7997 ; day:17 ; month:1 ; year:2024 ; pages:151-159 ; date:2.2024
Nature; 626, Heft 7997 (17.1.2024), 151-159, 2.2024
- Creator
-
Lim, Fabian
Solvason, Joe J.
Ryan, Genevieve E.
Le, Sophia H.
Jindal, Granton A.
Steffen, Paige
Jandu, Simran K.
Farley, Emma K.
- Contributor
-
SpringerLink (Online service)
- DOI
-
10.1038/s41586-023-06922-8
- URN
-
urn:nbn:de:101:1-2405112124387.075719314824
- Rights
-
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
-
14.08.2025, 10:52 AM CEST
Data provider
This object is provided by:
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Associated
- Lim, Fabian
- Solvason, Joe J.
- Ryan, Genevieve E.
- Le, Sophia H.
- Jindal, Granton A.
- Steffen, Paige
- Jandu, Simran K.
- Farley, Emma K.
- SpringerLink (Online service)
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Enhancer variants: evaluating functions in common disease
Biallelic PTPMT1 variants disrupt cardiolipin metabolism and lead to a neurodevelopmental syndrome
Effect of BRCA2 sequence variants predicted to disrupt exonic splice enhancers on BRCA2transcripts
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing
INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex
Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish
Monoallelic de novo AJAP1 loss-of-function variants disrupt trans-synaptic control of neurotransmitter release
TUBG1 missense variants underlying cortical malformations disrupt neuronal locomotion and microtubule dynamics but not neurogenesis
Focal structural variants revealed by whole genome sequencing disrupt the histone demethylase KDM4C in B cell lymphomas
DNA-binding factor footprints and enhancer RNAs identify functional non-coding genetic variants
Disrupt! - Widerstand gegen den technologischen Angriff
Splice-disrupt genomic variants in prostate cancer
Enhancer variants: evaluating functions in common disease
Biallelic PTPMT1 variants disrupt cardiolipin metabolism and lead to a neurodevelopmental syndrome
Effect of BRCA2 sequence variants predicted to disrupt exonic splice enhancers on BRCA2transcripts
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing
INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex
Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish
Monoallelic de novo AJAP1 loss-of-function variants disrupt trans-synaptic control of neurotransmitter release
TUBG1 missense variants underlying cortical malformations disrupt neuronal locomotion and microtubule dynamics but not neurogenesis
Focal structural variants revealed by whole genome sequencing disrupt the histone demethylase KDM4C in B cell lymphomas
DNA-binding factor footprints and enhancer RNAs identify functional non-coding genetic variants