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This report describes a case of an 11‐year‐old Chinese boy with cystic fibrosis (CF) bearing the c.1521_1523delCTT/c.3874‐4522A>G genotype, an extremely rare CF genotype in the Chinese population. Notably, the deep intron mutation c.3874‐4522A>G, which has mainly been reported in patients with phenotypically mild CF, is identified here for the first time in a Chinese patient with severe CF....
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