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5'-UTR SNP of FGF13 causes translational defect and intellectual disability.
Pan X, Zhao J, Zhou Z, Chen J, Yang Z, Wu Y, Bai M, Jiao Y, Yang Y, Hu X, Cheng T, Lu Q, Wang B, Li CL, Lu YJ, Diao L, Zhong YQ, Pan J, Zhu J, Xiao HS, Qiu ZL, Li J, Wang Z, Hui J, Bao L, Zhang X. Pan X, et al. Among authors: li j, li cl. Elife. 2021 Jun 29;10:e63021. doi: 10.7554/eLife.63021. Elife. 2021. PMID: 34184986 Free PMC article.
Correction of a genetic disease in mouse via use of CRISPR-Cas9.
Wu Y, Liang D, Wang Y, Bai M, Tang W, Bao S, Yan Z, Li D, Li J. Wu Y, et al. Among authors: li d, li j. Cell Stem Cell. 2013 Dec 5;13(6):659-62. doi: 10.1016/j.stem.2013.10.016. Cell Stem Cell. 2013. PMID: 24315440 Free article.
Dosage effect of multiple genes accounts for multisystem disorder of myotonic dystrophy type 1.
Yin Q, Wang H, Li N, Ding Y, Xie Z, Jin L, Li Y, Wang Q, Liu X, Xu L, Li Q, Ma Y, Cheng Y, Wang K, Zhong C, Yu Q, Tang W, Chen W, Yang W, Zhang F, Ding C, Bao L, Zhou B, Hu P, Li J. Yin Q, et al. Among authors: li y, li j, li n, li q. Cell Res. 2020 Feb;30(2):133-145. doi: 10.1038/s41422-019-0264-2. Epub 2019 Dec 18. Cell Res. 2020. PMID: 31853004 Free PMC article.
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