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40 积分 2024-12-07 加入
Refinement of pathogenicity classification of variants associated with familial hypercholesterolemia: Implications for clinical diagnosis
12小时前
已完结
Whole-exome sequencing uncovered genetic diagnosis of severe inherited haemolytic anaemia: Correlation with clinical phenotypes
1个月前
已完结
Timely diagnosis of sitosterolemia by next generation sequencing in two children with severe hypercholesterolemia
3个月前
已完结
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