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Cytogenetics and molecular genetics

Detection of subclonal SETBP1 and JAK3 mutations in juvenile myelomonocytic leukemia using droplet digital PCR

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Fig. 1: SETBP1 and JAK3 mutations identified by droplet digital PCR.
Fig. 2: Co-occurrence of SETBP1 and JAK3 mutations in JMML.


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The authors acknowledge all clinicians, patients, and their families, and thank Ms Yoshie Miura, Ms Chie Moriyama, Ms Hiroko Ono, and Ms Chie Amahori for their valuable assistance. The authors acknowledge the Division for Medical Research Engineering, Nagoya University Graduate School of Medicine, for providing technical support.


This work was supported by Japan Society for the Promotion of Science KAKENHI Grant number 18K07816 to HM.

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MW performed research, analyzed data, and wrote the paper. YO, HM, and YT designed and analyzed data, led the project, and wrote the paper. NM, NK, and SK performed research and bioinformatics analysis. SM, KN, SK, DI, MH, RT, KS, NK, EN, AN, and NN collected clinical sample and data. All authors reviewed and approved the final version of the manuscript.

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Correspondence to Hideki Muramatsu or Yoshiyuki Takahashi.

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Wakamatsu, M., Okuno, Y., Murakami, N. et al. Detection of subclonal SETBP1 and JAK3 mutations in juvenile myelomonocytic leukemia using droplet digital PCR. Leukemia 35, 259–263 (2021).

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