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Article

A variant in IL6ST with a selective IL-11 signaling defect in human and mouse

The GP130 cytokine receptor subunit encoded by IL6ST is the shared receptor for ten cytokines of the IL-6 family. We describe a homozygous non-synonymous variant in IL6ST (p.R281Q) in a patient with craniosynosto...

Tobias Schwerd, Freia Krause, Stephen R. F. Twigg, Dominik Aschenbrenner… in Bone Research (2020)