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

Holthöfer, LauraDiederich, StefanHaug, VerenaLehmann, LiobaHewel, CharlottePaul, Norbert W.Schweiger, SusannGerber, SusanneLinke, Matthias2024-12-122024-12-122024https://openscience.ub.uni-mainz.de/handle/20.500.12030/11122engCC-BY-4.0https://creativecommons.org/licenses/by/4.0/610 Medizin610 Medical sciencesA case of an Angelman-syndrome caused by an intragenic duplication of UBE3A uncovered by adaptive nanopore sequencingZeitschriftenaufsatz