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Douglas F. Easton et al.
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Saturation editing of genomic regions by multiplex homology-directed repair
Gregory M. Findlay et al.
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William I. Towler et al.
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DNA targeting specificity of RNA-guided Cas9 nucleases
Patrick D. Hsu et al.
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Toby J. Gibson et al.
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Genome engineering using the CRISPR-Cas9 system
F. Ann Ran et al.
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Peter Bouwman et al.
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Gael A. Millot et al.
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Jan E. Carette et al.
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Derek J. R. Ransburgh et al.
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Detection of nonneutral substitution rates on mammalian phylogenies
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Sharon E. Plon et al.
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Kelly J. Beumer et al.
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Paul K. Lovelock et al.
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SV Tavtigian et al.
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TR Rebbeck et al.
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EN Shiozaki et al.
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AJ Pierce et al.
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PS Brzovic et al.
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