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A case of an Angelman-syndrome caused by an intragenic duplication of UBE3A uncovered by adaptive nanopore sequencing

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Authors: Laura Holthöfer, Stefan Diederich, Verena Haug, Lioba Lehmann, Charlotte Hewel, Norbert W. Paul, Susann Schweiger, Susanne Gerber, Matthias Linke
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  • Published on: August 2 2024
  • Source: Clinical Epigenetics

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