RNA sequencing and target long-read sequencing reveal an intronic transposon insertion causing aberrant splicing.
Kawakami R, Hiraide T, Watanabe K, Miyamoto S, Hira K, Komatsu K, Ishigaki H, Sakaguchi K, Maekawa M, Yamashita K, Fukuda T, Miyairi I, Ogata T, Saitsu H.
Kawakami R, et al. Among authors: saitsu h.
J Hum Genet. 2024 Feb;69(2):91-99. doi: 10.1038/s10038-023-01211-8. Epub 2023 Dec 15.
J Hum Genet. 2024.
PMID: 38102195