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Fig. 1 | Orphanet Journal of Rare Diseases

Fig. 1

From: Transcriptional profiling of peripheral blood mononuclear cells identifies inflammatory phenotypes in Ataxia Telangiectasia

Fig. 1

Study design and cohort phenotype/genotype characteristics. (A) Diagram outlining study design. (B) Boxplot showing rlog-normalized ATM expression in PBMCs stratified by A-T classification, showing decreasing ATM mRNA detection with increasing disease severity. C,E) Pie charts showing number of mutations with a high impact consequence detected in a given study participant for classic A-T (C) and mild A-T (E) affected individuals. D,F) Barplot showing most frequent mutation consequences for mutations detected in classic A-T (D) and mild A-T (F) affected individuals

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172