6 variants, 1 located in the signal peptide (p.M1I), and 5 non-synonymous variants (p.A36T, p.Y57C, p.W69R, p.R101Q, p.I169T) showed a trend towards reduced responses to IL-10 stimulation, but these differences did not reach statistical significance of p < 0.05 in the HEK293 cell system (Fig. 2A ; Supplementary Fig. 3A ).
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Pathogenic Interleukin-10 Receptor Alpha Variants in Humans - Balancing Natural Selection and Clinical Implications.
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