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C-to-G editing generates double-strand breaks causing deletion, transversion and translocation.
Huang ME, Qin Y, Shang Y, Hao Q, Zhan C, Lian C, Luo S, Liu LD, Zhang S, Zhang Y, Wo Y, Li N, Wu S, Gui T, Wang B, Luo Y, Cai Y, Liu X, Xu Z, Dai P, Li S, Zhang L, Dong J, Wang J, Zheng X, Xu Y, Sun Y, Wu W, Yeap LS, Meng FL. Huang ME, et al. Among authors: wang j, wang b. Nat Cell Biol. 2024 Feb;26(2):294-304. doi: 10.1038/s41556-023-01342-2. Epub 2024 Jan 23. Nat Cell Biol. 2024. PMID: 38263276
Biallelic variants in RBM42 cause a multisystem disorder with neurological, facial, cardiac, and musculoskeletal involvement.
Chen Y, Yang B, Zhang XM, Chen S, Wang M, Hu L, Pan N, Li S, Shi W, Yang Z, Wang L, Tan Y, Wang J, Wang Y, Xing Q, Ma Z, Li J, Huang HF, Zhang J, Xu C. Chen Y, et al. Among authors: wang l, wang j, wang y, wang m. Protein Cell. 2024 Jan 3;15(1):52-68. doi: 10.1093/procel/pwad034. Protein Cell. 2024. PMID: 37294900 Free PMC article.
Bi-allelic variants in CEP295 cause Seckel-like syndrome presenting with primary microcephaly, developmental delay, intellectual disability, short stature, craniofacial and digital abnormalities.
Li N, Xu Y, Chen H, Lin J, AlAbdi L, Bekheirnia MR, Li G, Gofin Y, Bekheirnia N, Faqeih E, Chen L, Chang G, Tang J, Yao R, Yu T, Wang X, Fu W, Fu Q, Shen Y, Alkuraya FS, Machol K, Wang J. Li N, et al. Among authors: wang x, wang j. EBioMedicine. 2024 Jan;99:104940. doi: 10.1016/j.ebiom.2023.104940. Epub 2023 Dec 27. EBioMedicine. 2024. PMID: 38154379 Free PMC article.
202,120 results
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