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Neonatal Diamond-Blackfan anemia: a case report
Hong-Ling WEI, Tong-Yan HAN, Xiao-Hui ZHU, Shuo GUAN
Chinese Journal of Contemporary Pediatrics, 2025, 27(10): 1276-1280.   DOI: 10.7499/j.issn.1008-8830.2504056

图2 患儿变异位点验证和家系分析结果 患儿RPS19基因存在c.175T>C（p.Ser59Pro）杂合错义突变，患儿父亲此位点有变异，患儿母亲、爷爷、奶奶该位点无变异。箭头所示为变异位点。
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