Varaico: Literature-Extracted Genetic Variants

Gene:SERPING1
Variant:p.L183F
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SERPING1

NM_000062.3:p.L183F

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

C1R Mutations Trigger Constitutive Complement 1 Activation in Periodontal Ehlers-Danlos Syndrome.

Gröbner R et al.

Frontiers in Immunology, 2019

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