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Oxford Nanopore long-read sequencing with CRISPR/Cas9-mediated target selection for accurate characterisation of copy number variants in the LDLR gene

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Authors: Robin A. Pilz, Dariush Skowronek, Loisa D. Bonde, Tadeusz Kałużewski, Ole J. Schamuhn, Raila Busch, Agnieszka Gach, Matthias Rath, Elisabeth Steinhagen-Thiessen, Ute Felbor
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  • Published on: March 4 2025
  • Source: European Journal of Medical Genetics

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