Varaico: Literature-Extracted Genetic Variants

Gene:KLKB1
Variant:p.I230N
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KLKB1

NM_000892.5:p.I230N

Associated Papers

Whole-Exome Sequencing of Total Joint Arthroplasty Patients Who Have Known Pulmonary Embolism: A Pilot Study.

Mayfield CK et al.

The Journal of Arthroplasty, 2026

Hereditary angioedema with normal C1 inhibitor associated with carboxypeptidase N deficiency.

Vincent D et al.

The Journal of Allergy and Clinical Immunology. Global, 2024

Severe plasma prekallikrein deficiency: Clinical characteristics, novel KLKB1 mutations, and estimated prevalence.

Barco S et al.

Journal of Thrombosis and Haemostasis : Jth, 2020

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."