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Determining the Pathogenicity of a Genomic Variant of Uncertain Significance Using CRISPR/Cas9 and Human Induced Pluripotent Stem Cells
BACKGROUND: The progression towards low-cost and rapid next-generation sequencing has uncovered a multitude of variants of unknown significance (VUS) in both patients and asymptomatic “healthy” individuals. A VUS is a rare or novel variant for which disease pathogenicity has not been conclusively de...
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| Publicat a: | Circulation |
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| Autors principals: | , , , , , , , , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
2018
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6298866/ https://ncbi.nlm.nih.gov/pubmed/29914921 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1161/CIRCULATIONAHA.117.032273 |
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