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Pathogenic gene variation spectrum and carrier screening for Wilson’s disease in Qingdao area
Molecular Genetics & Genomic Medicine ( IF 1.5 ) Pub Date : 2021-07-09 , DOI: 10.1002/mgg3.1741
Lingyan Qiao 1 , Juan Ge 1 , Cheng Li 1 , Yusheng Liu 2 , Conghui Hu 1 , Sicui Hu 1 , Wenjie Li 3 , Tang Li 1
Affiliation  

Despite the increasing number of reports on the analysis of ATP7B variants, reports on carrier screening for Wilson's disease (WD, OMIM:277900) are rare.

中文翻译:

青岛地区威尔逊病致病基因变异谱及携带者筛查

尽管关于 ATP7B 变体分析的报告越来越多,但关于威尔逊病携带者筛查的报告 (WD, OMIM:277900) 却很少见。
更新日期:2021-08-30
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