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Dstyk mutation leads to congenital scoliosis-like vertebral malformations in zebrafish via dysregulated mTORC1/TFEB pathway.
Sun X, Zhou Y, Zhang R, Wang Z, Xu M, Zhang D, Huang J, Luo F, Li F, Ni Z, Zhou S, Chen H, Chen S, Chen L, Du X, Chen B, Huang H, Liu P, Yin L, Qiu J, Chen D, Deng C, Xie Y, Luo L, Chen L. Sun X, et al. Among authors: chen l, chen b, chen s, chen d, chen h. Nat Commun. 2020 Jan 24;11(1):479. doi: 10.1038/s41467-019-14169-z. Nat Commun. 2020. PMID: 31980602 Free PMC article.
[Gly374Arg mutation in Fgfr3 causes achondroplasia in mice].
Wang JM, Du XL, Li CL, Yin LJ, Chen B, Sun J, Su N, Zhao L, Song RH, Song WW, Chen L, Deng CX. Wang JM, et al. Among authors: chen l, chen b. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2004 Dec;21(6):537-41. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2004. PMID: 15583977 Chinese.
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