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Novel de novo nonsense mutation of the PHEX gene (p.Lys50Ter) in a Chinese patient with hypophosphatemic rickets

Huang Yanru; Mei Libin; Pan Qian; Tan Hu; Quan Yi; Gui Baoheng; Chang Jiazhen; Ma Ruiyu; Peng Ying; Yang Pu; Liang Desheng; Wu Lingqian
SCI
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