Associated Papers
Population-scale Analysis Reveals Germline Loss of SERPING1 (C1-Inhibitor) is a Polyphenotypic Thrombotic Disorder.
Rodriguez Espada A et al.
Blood Advances, 2025
41026970 (PubMed )
Supplement: BLOODA_ADV-2025-017220-mmc2.xlsx › Table_S2
Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.
Cereda M et al.
Nature Communications, 2016
27377421 (PubMed )
Supplement: ncomms12072-s2.xlsx › S6T1
Mutation screening of C1 inhibitor gene in 108 unrelated families with hereditary angioedema: functional and structural correlates.
Pappalardo E et al.
Molecular Immunology, 2008
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