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Gain-of-function mutations in SCN11A cause familial episodic pain.
Zhang XY, Wen J, Yang W, Wang C, Gao L, Zheng LH, Wang T, Ran K, Li Y, Li X, Xu M, Luo J, Feng S, Ma X, Ma H, Chai Z, Zhou Z, Yao J, Zhang X, Liu JY. Zhang XY, et al. Among authors: liu jy. Am J Hum Genet. 2013 Nov 7;93(5):957-66. doi: 10.1016/j.ajhg.2013.09.016. Epub 2013 Oct 24. Am J Hum Genet. 2013. PMID: 24207120 Free PMC article.
Underestimated disease prevalence and severe phenotypes in patients with biallelic variants: A cohort study of primary familial brain calcification from China.
Chen S, Cen Z, Fu F, Chen Y, Chen X, Yang D, Wang H, Wu H, Zheng X, Xie F, Ouyang Z, Tang W, Zhang S, Yin L, Zhang Y, Meng P, Zhu X, Zhang H, Jiang F, Zhang K, He J, Zhang D, Ming H, Song D, Zhou Z, Luo Y, Gu Q, Su Y, Wu X, Tang H, Wu C, Chen W, Liu JY, Luo W; Chinese PFBC Study Group. Chen S, et al. Among authors: liu jy. Parkinsonism Relat Disord. 2019 Jul;64:211-219. doi: 10.1016/j.parkreldis.2019.04.009. Epub 2019 Apr 11. Parkinsonism Relat Disord. 2019. PMID: 31003906
A Novel CDH1 Mutation Causing Reduced E-Cadherin Dimerization Is Associated with Nonsyndromic Cleft Lip With or Without Cleft Palate.
Du S, Yang Y, Yi P, Luo J, Liu T, Chen R, Liu CJ, Ma T, Li Y, Wang C, Weng J, Liu M, Zhang L, Yang B, Zeng X, Liu JY. Du S, et al. Among authors: liu m, liu cj, liu t, liu jy. Genet Test Mol Biomarkers. 2019 Nov;23(11):759-765. doi: 10.1089/gtmb.2019.0092. Epub 2019 Oct 22. Genet Test Mol Biomarkers. 2019. PMID: 31638429
2,864 results