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. 2023 Dec 19;4(12):101333. doi: 10.1016/j.xcrm.2023.101333

Figure 7.

Figure 7

Exome analysis of a patient with low UPR reveals another SNP in EIF2AK3

(A) Heatmap of a UPR signature in the SAVI dataset.

(B) Violin plot of PPP1R15A expression (encoding GADD34) in monocytes and DCs of the SAVI dataset. Dark lines indicate medians.

(C) Heatmap of an apoptosis signature in the SAVI dataset.

(D) Heatmap of an NF-κB activation signature in the SAVI dataset.

(E) Workflow of the exome analysis based on the 85 genes of the UPR signature. MAF, major allele frequency.

(F) Table of the four SNPs found in P1.

(A, C, and D) Gray squares indicate clusters not found in a sample.