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Figure 1 | BMC Medical Genetics

Figure 1

From: Pitfalls in mutational testing and reporting of common KIT and PDGFRA mutations in gastrointestinal stromal tumors

Figure 1

Sequence details illustrating the divergent results of the first trial. a Detail of the forward sequencing reaction of sample T1.6: the missense mutation c.2525A>T leading to p.D842V in PDGFRA was not detected due to high background peaks. b Detail of the forward reaction of sample T1.4: the deletion c.2527_2538del12 in PDGFRA was misinterpreted as p.D842_H845del instead of p.I843_D846del. c Detail of the forward reaction of sample T1.4: Reamplificaton lead to the assumption of an unknown missense mutation in PDGFRA (c.2464G>A leading to p.R822H). Mutated nucleotides are marked by open boxes.

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BMC Medical Genetics

ISSN: 1471-2350

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