Loss of DIAPH1 causes SCBMS, combined immunodeficiency, and mitochondrial dysfunction.
J Allergy Clin Immunol. 2021 Aug;148(2):599-611. doi: 10.1016/j.jaci.2020.12.656. Epub 2021 Mar 1.
J Allergy Clin Immunol. 2021.
PMID: 33662367
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Clinical Trial.