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Rare coding variants in MAPK7 predispose to adolescent idiopathic scoliosis.
Gao W, Chen C, Zhou T, Yang S, Gao B, Zhou H, Lian C, Wu Z, Qiu X, Yang X, Alattar E, Liu W, Su D, Sun S, Chen Y, Cheung KMC, Song Y, Luk KKD, Chan D, Sham PC, Xing C, Khor CC, Liu G, Yang J, Deng Y, Hao D, Huang D, Li QZ, Xu C, Su P. Gao W, et al. Among authors: qiu x. Hum Mutat. 2017 Nov;38(11):1500-1510. doi: 10.1002/humu.23296. Epub 2017 Jul 25. Hum Mutat. 2017. PMID: 28714182
MET mutation causes muscular dysplasia and arthrogryposis.
Zhou H, Lian C, Wang T, Yang X, Xu C, Su D, Zheng S, Huang X, Liao Z, Zhou T, Qiu X, Chen Y, Gao B, Li Y, Wang X, You G, Fu Q, Gurnett C, Huang D, Su P. Zhou H, et al. Among authors: qiu x. EMBO Mol Med. 2019 Mar;11(3):e9709. doi: 10.15252/emmm.201809709. EMBO Mol Med. 2019. PMID: 30777867 Free PMC article.
8,196 results