Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling.
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PLoS Genet. 2023 Nov 7;19(11):e1011005. doi: 10.1371/journal.pgen.1011005. eCollection 2023 Nov.
PLoS Genet. 2023.
PMID: 37934770
Free PMC article.