Associated Papers
A semiautomated whole-exome sequencing workflow leads to increased diagnostic yield and identification of novel candidate variants.
Ji J et al.
Cold Spring Harbor Molecular Case Studies, 2019
Clinical flow cytometric screening of SAP and XIAP expression accurately identifies patients with SH2D1A and XIAP/BIRC4 mutations.
Gifford CE et al.
Cytometry. Part B, Clinical Cytometry, 2014
Targeted NGS: A Cost-Effective Approach to Molecular Diagnosis of PIDs.
Stoddard JL et al.
Frontiers in Immunology, 2014
25404929 (PubMed )
Supplement: Data_Sheet_1.XLSX › Table_S4
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