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40 积分 2026-01-27 加入
Whole exome sequencing reveal 83 novel Mendelian disorders carrier P/LP variants in Chinese adult patients
16小时前
待确认
Newborn Genetic Screening Revealed Increased Levels of Biochemical Indicators in Carriers of Heterozygous Variants
2天前
已完结
Reassessment of the NF1 variants of unknown significance found during the 20-year activity of a genetics diagnostic laboratory
4天前
已完结
RECQL4-related Rothmund-Thomson syndrome: A case series and literature review
7天前
已完结
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