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Long-read genome sequencing and RNA sequencing resolve an intronic LINE-1 insertion in the APC gene in a so far unsolved adenomatous polyposis family

Alexandra A. Baumann, Lisanne Knol, Marie Arlt, Tim Hutschenreiter, Anja Richter, Marcus Franke,Doreen William,Karl Hackmann,Daniela Richter,Isabel Spier,Stefan Aretz,Hanno Glimm,Evelin Schroeck,Arne Jahn

EUROPEAN JOURNAL OF HUMAN GENETICS（2024）

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