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Precise genomic deletions using paired prime editing. Nat Biotechnol. 2021;1\u20139.","DOI":"10.1101\/2020.12.30.424891"},{"key":"10.1007\/s13311-022-01197-9_bib93","doi-asserted-by":"crossref","unstructured":"Jiang T, Zhang X-O, Weng Z, et al. Deletion and replacement of long genomic sequences using prime editing. Nat Biotechnol. 2021;1\u20138.","DOI":"10.1038\/s41587-021-01026-y"},{"key":"10.1007\/s13311-022-01197-9_bib94","doi-asserted-by":"crossref","unstructured":"Rousseau J, Mbakam CH, Guyon A, et al. Specific mutations in genes responsible for Alzheimer and for Duchenne muscular dystrophy introduced by base editing and PRIME editing. bioRxiv. 2020.","DOI":"10.1101\/2020.07.31.230565"},{"key":"10.1007\/s13311-022-01197-9_bib95","doi-asserted-by":"crossref","first-page":"290","DOI":"10.1126\/science.aba8853","article-title":"Unconstrained genome targeting with near-PAMless engineered CRISPR-Cas9 variants","volume":"368","author":"Walton","year":"2020","journal-title":"Science"},{"key":"10.1007\/s13311-022-01197-9_bib96","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1038\/nature26155","article-title":"Evolved Cas9 variants with broad PAM compatibility and high DNA specificity","volume":"556","author":"Hu","year":"2018","journal-title":"Nature"},{"key":"10.1007\/s13311-022-01197-9_bib97","doi-asserted-by":"crossref","first-page":"2001","DOI":"10.1016\/j.ymthe.2021.02.022","article-title":"Engineered prime editors with PAM flexibility","volume":"29","author":"Kweon","year":"2021","journal-title":"Mol Ther"},{"key":"10.1007\/s13311-022-01197-9_bib98","doi-asserted-by":"crossref","unstructured":"O'Keeffe Ahern J, Lara-S\u00e1ez I, Zhou D, et al. Non-viral delivery of CRISPR\u2013Cas9 complexes for targeted gene editing via a polymer delivery system. 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