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. 2022 May 1;42(3):384–388. doi: 10.3343/alm.2022.42.3.384

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© Korean Society for Laboratory Medicine

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

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Fig. 1 — Bone marrow morphologic characteristics of the patient, next-generation sequencing data visualization using Integrative Genomics Viewer, and Sanger sequencing results revealing two RAB27A variants. (A, B) Hemophagocytes with ingested granulocytes (A) and multiple ingested nucleated red blood cells and erythroid progenitors (B) on the bone marrow aspirate smears (Wright-Giemsa stain, ×1,000). (C, D) Sequences of the RAB27A gene showing two splice site variants, c.467+5G>A (C) and c.343+2T>C (D). (E) Sanger sequencing chromatograms of the two RAB27A variants in the patient and his parents.