Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup
University of Otago · Instituto de Investigación Sanitaria del Hospital Clínico San Carlos · +6 more institutions
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Abstract
No abstract available for this paper.
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290
total citations
- FWCI
- 42.30
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- 100%
- References
- 69
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Authors
35Topics & keywords
Keywords
- RNA splicing
- Alternative splicing
- Computational biology
- Biology
- Evolutionary biology
- Medicine
- Genetics
- Exon
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Funding
- MCMackenzie Charatible Foundation
- ECEuropean Commission
- MDMinisterio de Ciencia e Innovación
- NINational Institutes of Health
- NHNational Health and Medical Research CouncilAward: APP177524
- HRHealth Research Council of New ZealandAwards: 19/460, 22/187
- IDInstituto de Salud Carlos IIIAward: PI20/00110
- EREuropean Regional Development Fund
- NHNational Human Genome Research InstituteAward: U24 HG006834
- NCNational Cancer InstituteAwards: U24 HG009650, U24 HG009649