PMC10043295_01
PMC10043295_02
A brief summary of medical history and pedigree for the RECQL mutation carriers. (A) Timeline of clinical events in 2 patients with acute leukemia. (B) The Pedigree and germline and tumor chromatopherogram confirmed the presence of single nucleotide variation in RECQL (rs146924988) in 2 patients with acute leukemia in this family, while it was negative in healthy members. (C) Sanger sequencing of nasopharyngeal swab specimens was used to verify RECQL mutation (rs146924988) in the proband and her two daughters. APL, acute promyelocytic leukemia; WES, whole exome sequencing; BCP-ALL, B-cell precursor acute lymphoblastic leukemia; Mut, mutant; WT, wide type.
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APL ( Figure 1A ). The pedigree for rs146924988 and leukemia was shown in  Figures 1B, C .