Fig. 1: Clinical factors associated with CH in SDS patients. | Nature Communications

Fig. 1: Clinical factors associated with CH in SDS patients.

From: Distinct genetic pathways define pre-malignant versus compensatory clonal hematopoiesis in Shwachman-Diamond syndrome

Fig. 1: Clinical factors associated with CH in SDS patients.

a Schema of genomic analysis. b A co-mutation plot showing somatic mutations in individual genes as labeled on the left. Mutations are depicted by colored bars and each column represents an individual patient in the indicated study cohort. The sum total of each event or mutation are tabulated to the right of each plot. c Number of mutations per patient in each of the four most frequently mutated genes:TP53, EIF6, PRPF8, and CSNK1A. d Base pair substitutions of somatic mutations in TP53 and EIF6. e Total number of somatic mutations by age in patients with biallelic germline SBDS mutations, based on targeted deep sequencing.

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