Varaico: Literature-Extracted Genetic Variants

Gene:F12
Variant:p.G582S
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F12

NM_000505.4:p.G582S

Associated Papers

A novel homozygous frameshift mutation (p.Lys365Glnfs*69) in a family with hereditary factor XII deficiency: a case report.

Li C et al.

Journal of Hematopathology, 2025

Mechanism, Functions, and Diagnostic Relevance of FXII Activation by Foreign Surfaces.

Konrath S et al.

Hamostaseologie, 2021

Molecular genetic analysis of Korean patients with coagulation factor XII deficiency.

Kwon MJ et al.

Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis, 2010

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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."