Fig. 2From: Chronic Candida infection, bronchiectasis, immunoglobulin abnormalities, and stunting: a case report of a natural mutation of STAT1 (c.986C>G) in an adolescent malePathogenic STAT1 variant identified in the 17-year-old male patient. a Integrative Genomics Viewer snapshot of the STAT1 pathogenic variant. (NM_007315.3, Exon11, c.986C>G, p.P329R) identified by whole-exome sequencing. b Validation of the STAT1 variant by Sanger sequencing. Chromatograms show the heterozygous variant in the proband (patient), indicated by the arrow, and the normal sequence in the unaffected parentsBack to article page