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. 2020 Sep 4;48(9):0300060520952621. doi: 10.1177/0300060520952621

Figure 3.

Figure 3.

Sequence diagrams for the patient and parents. Genetic testing revealed that the patient had a heterozygous mutation in the KIT gene, c.2447A > T (p.D816V). No mutations of the KIT gene were found in the parents.