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[Two novel mutations (c.830A>G, c.252+1G>A) in NT5C3A associated with hereditary pyrimidine 5'-nucleotidase deficiency: two cases report and literature review].

Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi - 14 Aug 2021

Li Y, Zhao X, Hu X R, Li J P, Xiong Y Z, Sun X X, Ye L, Yang Y, Li Y, Yang W R, Peng G X, Fan H H, Zhou K, Jing L P, Zhang F K, Zhang L

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PMID: 34547876
DOI: 10.3760/cma.j.issn.0253-2727.2021.08.012
PMCID: PMC8501278

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