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（2021）
关键词
hereditary pyrimidine,novel mutations,nt5c3a,deficiency
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