著者名,論文名,雑誌名,ISSN,出版者名,出版日付,巻,号,ページ,URL,URL(DOI)
"Uchiyama, Hiroki and Masunaga, Yohei and Ishikawa, Takamichi and Fukuoka, Tetsuya and Fukami, Maki and Saitsu, Hirotomo and Ogata, Tsutomu",TSC1 intragenic deletion transmitted from a mosaic father to two siblings with cardiac rhabdomyomas: identification of two aberrant transcripts,European Journal of Medical Genetics,1769-7212,Elsevier,2020-11,63,11,104060,https://cir.nii.ac.jp/crid/1050853257534650752,https://doi.org/10.1016/j.ejmg.2020.104060