Varaico: Literature-Extracted Genetic Variants

Gene:KLKB1
Variant:p.S151fs
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KLKB1

NM_000892.5:p.S151fs

Associated Papers

Adult genomic medicine: lessons from a multisite study of 2700 patients.

Bakur K et al.

Genome Medicine, 2025

41024252 (PubMed )
Supplement: 13073_2025_1529_MOESM1_ESM.xlsx › Sheet1

c.451dupT in KLKB1 is common in Nigerians, confirming a higher prevalence of severe prekallikrein deficiency in Africans compared to Europeans.

Adenaeuer A et al.

Journal of Thrombosis and Haemostasis : Jth, 2021

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."