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RevUP: an online scoring system for regulatory variants implicated in rare diseases
SUMMARY: To address the difficulty in assessing the implication of regulatory variants in diseases, a scoring scheme previously published allows the calculation of the Regulatory Variant Evidence score (RVE-score). The score represents the accumulated evidence for a causative role of a regulatory va...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Oxford University Press
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9048665/ https://www.ncbi.nlm.nih.gov/pubmed/35289834 http://dx.doi.org/10.1093/bioinformatics/btac157 |