Heterozygous mutation of the splicing factor Sf3b4 affects development of the axial skeleton and forebrain in mouse

Background Splicing factor 3B subunit 4 (SF3B4) is a causative gene of an acrofacial dysostosis, Nager syndrome. Although in vitro analyses of SF3B4 have proposed multiple noncanonical functions unrelated to splicing, less information is available based on in vivo studies using model animals. Result...

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