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. 2022 Nov 4;141(5):534–549. doi: 10.1182/blood.2022018221

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Figure 3. — Demographic features of DDX41-mutated patients. (A) Frequency of DDX41-mutated patients in different subtypes of MNs including LR- and HR-MDS, sAML, pAML, MDS/MPN, and MPN with DDX41-mutation status in terms of mono vs biallelic and truncating vs nontruncating variants. (B-C) Comparison of WBC counts, BM NCC, megakaryocyte (Meg) counts, BM cellularity (B), BM blast and erythroblast (Ebl) counts (C) between DDX41-mutated and unmutated cases. P values are provided using the Wilcoxon rank-sum test. (D) Male and female distributions in disease phenotypes. P values and ORs are provided using the Fisher exact test. (E) Enrichment of 10 major germ line DDX41 alleles in Japanese MN cases compared with control Japanese populations were separately shown for male/female subjects. ORs are plotted with 95% CI for each allele. (F) Cumulative incidence of MNs in male vs female carriers of DDX41 risk alleles estimated by kin-cohort analysis. P value was provided using the Wilcoxon signed-rank test. NCC, nucleated cell counts; pAML, primary AML.

Figure 3. — Demographic features of DDX41-mutated patients. (A) Frequency of DDX41-mutated patients in different subtypes of MNs including LR- and HR-MDS, sAML, pAML, MDS/MPN, and MPN with DDX41-mutation status in terms of mono vs biallelic and truncating vs nontruncating variants. (B-C) Comparison of WBC counts, BM NCC, megakaryocyte (Meg) counts, BM cellularity (B), BM blast and erythroblast (Ebl) counts (C) between DDX41-mutated and unmutated cases. P values are provided using the Wilcoxon rank-sum test. (D) Male and female distributions in disease phenotypes. P values and ORs are provided using the Fisher exact test. (E) Enrichment of 10 major germ line DDX41 alleles in Japanese MN cases compared with control Japanese populations were separately shown for male/female subjects. ORs are plotted with 95% CI for each allele. (F) Cumulative incidence of MNs in male vs female carriers of DDX41 risk alleles estimated by kin-cohort analysis. P value was provided using the Wilcoxon signed-rank test. NCC, nucleated cell counts; pAML, primary AML.