Litcius/Paper detail

SVA retrotransposon insertion in exon of MMR genes results in aberrant RNA splicing and causes Lynch syndrome

Gou Yamamoto, Izumi Miyabe, Keisuke Tanaka, Miho Kakuta, Motoko Watanabe, Satoru Kawakami, Hideyuki Ishida, Kiwamu Akagi

2020European Journal of Human Genetics29 citationsDOIOpen Access PDF

Topics & Concepts

Lynch syndromeGeneticsBiologyRetrotransposonMSH6ExonGeneMSH2GenomeDNA mismatch repairComputational biologyTransposable elementDNA repairGenetic factors in colorectal cancerRNA Research and SplicingRNA modifications and cancer