Varaico: Literature-Extracted Genetic Variants

Gene:KLKB1
Variant:p.K139_R140insFs
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KLKB1

NM_000892.5:p.K139_R140insFs

Associated Papers

[Analysis of two consanguineous Chinese pedigrees affected with Hereditary prokallikrein deficiency and High molecular weight kininogen deficiency].

Chen B et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2024

Genetic Analysis of Prekallikrein Deficiency in a Consanguineously Married Chinese Family.

Chen Y et al.

Turkish Journal of Haematology : Official Journal of Turkish Society of Haematology, 2023

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."