Fig. 1From: An immunocompetent patient with a nonsense mutation in NHEJ1 geneWES results showing homozygous mutation in NHEJ1 gene in the proband, as visualized using Integrative Genome Viewer (IGV). Sanger sequencing confirms the presence of heterozygous mutation in NHEJ1 gene in both parents. Arrows indicate the site of the mutationBack to article page