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Evaluation of reported pathogenic variants and their frequencies in a Japanese population based on a whole-genome reference panel of 2049 individuals.
Yamaguchi-Kabata Y, Yasuda J, Tanabe O, Suzuki Y, Kawame H, Fuse N, Nagasaki M, Kawai Y, Kojima K, Katsuoka F, Saito S, Danjoh I, Motoike IN, Yamashita R, Koshiba S, Saigusa D, Tamiya G, Kure S, Yaegashi N, Kawaguchi Y, Nagami F, Kuriyama S, Sugawara J, Minegishi N, Hozawa A, Ogishima S, Kiyomoto H, Takai-Igarashi T; ToMMo Study Group; Kinoshita K, Yamamoto M. Yamaguchi-Kabata Y, et al. Among authors: kojima k. J Hum Genet. 2018 Feb;63(2):213-230. doi: 10.1038/s10038-017-0347-1. Epub 2017 Dec 1. J Hum Genet. 2018. PMID: 29192238 Clinical Trial.
Identification of acquired mutations by whole-genome sequencing in GATA-2 deficiency evolving into myelodysplasia and acute leukemia.
Fujiwara T, Fukuhara N, Funayama R, Nariai N, Kamata M, Nagashima T, Kojima K, Onishi Y, Sasahara Y, Ishizawa K, Nagasaki M, Nakayama K, Harigae H. Fujiwara T, et al. Among authors: kojima k. Ann Hematol. 2014 Sep;93(9):1515-22. doi: 10.1007/s00277-014-2090-4. Epub 2014 Apr 30. Ann Hematol. 2014. PMID: 24782121 Free PMC article.
2,870 results