Varaico: Literature-Extracted Genetic Variants

Gene:KNG1
Variant:p.Q486*
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KNG1

NM_001102416.3:p.Q486*

Associated Papers

Severe high-molecular-weight kininogen deficiency: clinical characteristics, deficiency-causing KNG1 variants, and estimated prevalence.

Adenaeuer A et al.

Journal of Thrombosis and Haemostasis : Jth, 2023

Severe high-molecular-weight kininogen deficiency due to a homozygous c.1456C > T nonsense variant in a large Chinese family.

Yang J et al.

Journal of Thrombosis and Thrombolysis, 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."