Long-read genome and RNA sequencing resolve a pathogenic intronic germline LINE-1 insertion in APC
长读长基因组和RNA测序解析了APC基因中致病性内含子生殖系LINE-1插入突变。
期刊:npj Genomic Medicine
影响因子:4.7
doi:10.1038/s41525-025-00485-5
Alexandra A Baumann # ,Lisanne I Knol # ,Marie Arlt ,Tim Hutschenreiter ,Anja Richter ,Thomas J Widmann ,Marcus Franke ,Karl Hackmann ,Sylke Winkler ,Daniela Richter ,Isabel Spier ,Stefan Aretz ,Daniela Aust ,Joseph Porrmann ,Doreen William ,Evelin Schröck ,Hanno Glimm ,Arne Jahn
