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Genome sequencing and RNA sequencing of urinary cells reveal an intronic FBN1 variant causing aberrant splicing

Takuya Hiraide, Kenji Shimizu, Sachiko Miyamoto, Kazushi Aoto, Mitsuko Nakashima, Tomomi Yamaguchi, Tomoki Kosho, Tsutomu Ogata, Hirotomo Saitsu

2022Journal of Human Genetics17 citationsDOI

Topics & Concepts

ProbandBiologyGeneticsExome sequencingExonIntronDNA sequencingGeneGenomeRNA splicingRNAPhenotypeMutationConnective tissue disorders researchGenomics and Rare DiseasesProtease and Inhibitor Mechanisms
Genome sequencing and RNA sequencing of urinary cells reveal an intronic FBN1 variant causing aberrant splicing | Litcius