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The global carrier frequency and genetic prevalence of Upshaw-Schulman syndrome

The global carrier frequency and genetic prevalence of Upshaw-Schulman syndrome
  • Mã tin: 4540
  • Ngày đăng: 10/02/2023
  • Gian hàng: mangyte  
  • Khu vực: Hà nội
  • Giá: Liên hệ
Upshaw–Schulman syndrome (USS) is an autosomal recessive disease characterized by thrombotic microangiopathies caused by pathogenic variants in ADAMTS13. We aimed to (1) curate the ADAMTS13 gene pathogenic variant dataset and (2) estimate the carrier frequency and genetic prevalence of USS using Genome Aggregation Database (gnomAD) data.
Mạng Y Tế
Nguồn: https://tailieu.vn/doc/the-global-carrier-frequency-and-genetic-prevalence-of-upshaw-schulman-syndrome-2613558.html
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