Associated Papers
Prevalence of Pathogenic and Potentially Pathogenic Inborn Error of Immunity Associated Variants in Children with Severe Sepsis.
Kernan KF et al.
Journal of Clinical Immunology, 2022
34973142 (PubMed )
Supplement: 10875_2021_1183_MOESM7_ESM.xlsx › data.and.gnomad.MAF.chi.sq.BH.c
Genetic variant spectrum in 265 Chinese patients with hemophagocytic lymphohistiocytosis: Molecular analyses of PRF1, UNC13D, STX11, STXBP2, SH2D1A, and XIAP.
Chen X et al.
Clinical Genetics, 2018
Primary hemophagocytic lymphohistiocytosis in adults: the utility of family surveys in a single-center study from China.
Jin Z et al.
Orphanet Journal of Rare Diseases, 2018
Germline cytotoxic lymphocytes defective mutations in Chinese patients with lymphoma.
Chen X et al.
Oncology Letters, 2017
Genome-wide discovery of human splicing branchpoints.
Mercer TR et al.
Genome Research, 2015
25561518 (PubMed )
Supplement: supp_gr.182899.114_Supplemental_TableS3.xlsx › HGMD_predictedMotifs
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