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Spectrum of SLC20A2, PDGFRB, PDGFB, and XPR1 mutations in a large cohort of patients with primary familial brain calcification.
Guo XX, Zou XH, Wang C, Yao XP, Su HZ, Lai LL, Chen HT, Lai JH, Liu YB, Chen DP, Deng YC, Lin P, Lin HS, Hong BC, Yao QY, Chen XJ, Huang DQ, Fu HX, Peng JD, Niu YF, Zhao YY, Zhu XQ, Lu XP, Lin HL, Li YK, Liu CY, Huang GB, Wang N, Chen WJ. Guo XX, et al. Hum Mutat. 2019 Apr;40(4):392-403. doi: 10.1002/humu.23703. Epub 2019 Jan 15. Hum Mutat. 2019. PMID: 30609140