机译:
Zhejiang University,Zhejiang Univ;
Life Sci Inst,Zhejiang Univ;
Sch Med,Nanjing Univ;
lupus nephritis; DDX58; pathogenic variant R109C; pathogenesis; targeted therapy; IFIH1 MUTATION; INTERFERON; ERYTHEMATOSUS; DEFICIENCY; ACTIVATION;
机译:Unexpected finding of a rare pathogenic germline BRCA1 variant in an intrahepatic cholangiocarcinoma using the Oncomine Focus DNA assay: clinical and diagnostic implications
机译:Refinement of pathogenicity classification of variants associated with familial hypercholesterolemia: Implications for clinical diagnosis
机译:Double heterozygotes of BRCA1/BRCA2 and mismatch repair gene pathogenic variants: case series and clinical implications
机译:LRRC59通过抑制SQSTM1 / p62介导的模式识别受体DDX58 / RIG-I的自噬降解来调节I型干扰素信号传导
机译:编码RIG-I的DDX58中的突变导致非典型单身者-合并症