Clustering of predicted loss-of-function variants in genes linked with monogenic disease can explain incomplete penetrance
- Standort
-
Deutsche Nationalbibliothek Frankfurt am Main
- Umfang
-
1 Online-Ressource.
- Sprache
-
Englisch
- Erschienen in
-
Clustering of predicted loss-of-function variants in genes linked with monogenic disease can explain incomplete penetrance ; volume:16 ; number:1 ; day:26 ; month:4 ; year:2024 ; pages:1-10 ; date:12.2024
Genome medicine ; 16, Heft 1 (26.4.2024), 1-10, 12.2024
- Urheber
-
Beaumont, Robin N.
Hawkes, Gareth
Gunning, Adam C.
Wright, Caroline F.
- Beteiligte Personen und Organisationen
-
SpringerLink (Online service)
- DOI
-
10.1186/s13073-024-01333-4
- URN
-
urn:nbn:de:101:1-2407092109218.271791559854
- Rechteinformation
-
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Letzte Aktualisierung
-
14.08.2025, 11:00 MESZ
Datenpartner
Dieses Objekt wird bereitgestellt von:
Deutsche Nationalbibliothek. Bei Fragen zum Objekt wenden Sie sich bitte an den Datenpartner.
Deutsche Nationalbibliothek. Bei Fragen zum Objekt wenden Sie sich bitte an den Datenpartner.
Beteiligte
- Beaumont, Robin N.
- Hawkes, Gareth
- Gunning, Adam C.
- Wright, Caroline F.
- SpringerLink (Online service)
Ähnliche Objekte (12)
Compound heterozygosity of predicted loss-of-function DESvariants in a family with recessive desminopathy
Analysis of predicted loss-of-function variants in UK Biobank identifies variants protective for disease
LoFTK: a framework for fully automated calculation of predicted Loss-of-Function variants and genes
The monogenic signal
Investigation into the Health Effects of Reduced Chymase Function Using Predicted Loss-of-Function Mutations in CMA1
Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19
Emerging Monogenic Complex Hyperkinetic Disorders
Monogenic Disorders of Adrenal Steroidogenesis
Correction: Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19
Embryological etiology of pancreaticobiliary system predicted from pancreaticobiliary maljunction with incomplete pancreatic divisum: a case report
Does predicted age at peak height velocity explain physical performance in U13–15 basketball female players?
Monogenic wavelet frames for image analysis
Compound heterozygosity of predicted loss-of-function DESvariants in a family with recessive desminopathy
Analysis of predicted loss-of-function variants in UK Biobank identifies variants protective for disease
LoFTK: a framework for fully automated calculation of predicted Loss-of-Function variants and genes
The monogenic signal
Investigation into the Health Effects of Reduced Chymase Function Using Predicted Loss-of-Function Mutations in CMA1
Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19
Emerging Monogenic Complex Hyperkinetic Disorders
Monogenic Disorders of Adrenal Steroidogenesis
Correction: Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19
Embryological etiology of pancreaticobiliary system predicted from pancreaticobiliary maljunction with incomplete pancreatic divisum: a case report
Does predicted age at peak height velocity explain physical performance in U13–15 basketball female players?
Monogenic wavelet frames for image analysis
Compound heterozygosity of predicted loss-of-function DESvariants in a family with recessive desminopathy
Analysis of predicted loss-of-function variants in UK Biobank identifies variants protective for disease
LoFTK: a framework for fully automated calculation of predicted Loss-of-Function variants and genes
The monogenic signal
Investigation into the Health Effects of Reduced Chymase Function Using Predicted Loss-of-Function Mutations in CMA1
Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19
Emerging Monogenic Complex Hyperkinetic Disorders
Monogenic Disorders of Adrenal Steroidogenesis
Correction: Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19
Embryological etiology of pancreaticobiliary system predicted from pancreaticobiliary maljunction with incomplete pancreatic divisum: a case report
Does predicted age at peak height velocity explain physical performance in U13–15 basketball female players?