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The de novo STAT3 mutation. A, The WES data of de novo mutation in STAT3 displayed in IGV viewer. B, Sanger sequencing of the STAT3 variant in genomic DNA. C, Sanger validation of the STAT3 cDNA from the constructed vectors. The c.2144C>A variant was confirmed in both STAT3α and STAT3β, which are transcription variants of STAT3. cont, Control; fa, father; mo, mother; pt, patient; WES, whole-exome sequencing.
