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A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis

Tobias Schwerd1,2, Stephen R F Twigg3, Dominik Aschenbrenner1

  • 1Translational Gastroenterology Unit, John Radcliffe Hospital, University of Oxford, Oxford, England, UK.

The Journal of Experimental Medicine
|July 28, 2017
PubMed

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