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机译:破译 Shprintzen-Goldberg 综合征患者两个新发序列变异的致病性
Post Grad Inst Med Educ & Res, Adv Pediat Ctr, Dept Pediat, Genet Metab Unit, Chandigarh, India;
Sanjay Gandhi Post Grad Inst Med Sci, Dept Med Genet, Lucknow, Uttar Pradesh, India;
de novo; Novel; Co-occurrence; Shprintzen-Goldberg syndrome; Sanger sequencing;
机译:De novo systemic?atypical hemolytic uremic syndrome in an ABO-incompatible living kidney transplant recipient with a?novel pathogenic CFHR1 gene mutation successfully treated with eculizumab: a case report
机译:De novo amyloid peptides with subtle sequence variations differ in their self-assembly and nanomechanical properties
机译:Comprehensive variation discovery and recovery of missing sequence in the pig genome using multiple de novo assemblies
机译:Desenvolvimento de um novo modelo experimental de sity syndrome do compartimento abdominal