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PCS/MVA syndrome caused by an Alu insertion in the BUB1B gene.
Kato M, Kato T, Hosoba E, Ohashi M, Fujisaki M, Ozaki M, Yamaguchi M, Sameshima H, Kurahashi H. Kato M, et al. Among authors: yamaguchi m. Hum Genome Var. 2017 Jun 8;4:17021. doi: 10.1038/hgv.2017.21. eCollection 2017. Hum Genome Var. 2017. PMID: 28611924 Free PMC article.
BRCA1/2 reversion mutations in a pan-cancer cohort.
Nakamura K, Hayashi H, Kawano R, Ishikawa M, Aimono E, Mizuno T, Kuroda H, Kojima Y, Niikura N, Kawanishi A, Takeshita K, Suzuki S, Ueno S, Okuwaki K, Sasaki J, Yamaguchi M, Masuda K, Chiyoda T, Yamagami W, Okada C, Nohara S, Tanishima S, Nishihara H. Nakamura K, et al. Among authors: yamaguchi m. Cancer Sci. 2024 Feb;115(2):635-647. doi: 10.1111/cas.16033. Epub 2023 Dec 1. Cancer Sci. 2024. PMID: 38041241 Free PMC article.
6,039 results