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dbTMM: an integrated database of large-scale cohort, genome and clinical data for the Tohoku Medical Megabank Project.
Ogishima S, Nagaie S, Mizuno S, Ishiwata R, Iida K, Shimokawa K, Takai-Igarashi T, Nakamura N, Nagase S, Nakamura T, Tsuchiya N, Nakaya N, Murakami K, Ueno F, Onuma T, Ishikuro M, Obara T, Mugikura S, Tomita H, Uruno A, Kobayashi T, Tsuboi A, Tadaka S, Katsuoka F, Narita A, Sakurai M, Makino S, Tamiya G, Aoki Y, Shimizu R, Motoike IN, Koshiba S, Minegishi N, Kumada K, Nobukuni T, Suzuki K, Danjoh I, Nagami F, Tanno K, Ohmomo H, Asahi K, Shimizu A, Hozawa A, Kuriyama S; Tohoku Medical Megabank Project Study Group; Fuse N, Tominaga T, Kure S, Yaegashi N, Kinoshita K, Sasaki M, Tanaka H, Yamamoto M. Ogishima S, et al. Hum Genome Var. 2021 Dec 10;8(1):44. doi: 10.1038/s41439-021-00175-5. Hum Genome Var. 2021. PMID: 34887386 Free PMC article.
Heterozygous calcyclin-binding protein/Siah1-interacting protein (CACYBP/SIP) gene pathogenic variant linked to a dominant family with paucity of interlobular bile duct.
Kanno M, Suzuki M, Tanikawa K, Numakura C, Matsuzawa SI, Niihori T, Aoki Y, Matsubara Y, Makino S, Tamiya G, Nakano S, Funayama R, Shirota M, Nakayama K, Mitsui T, Hayasaka K. Kanno M, et al. Among authors: shirota m. J Hum Genet. 2022 Jul;67(7):393-397. doi: 10.1038/s10038-022-01017-0. Epub 2022 Jan 28. J Hum Genet. 2022. PMID: 35087201
169 results