Varaico: Literature-Extracted Genetic Variants

Gene:F11
Variant:p.Y521C
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F11

NM_000128.4:p.Y521C

Associated Papers

Molecular mechanism analysis of a family with hereditary coagulation FXI deficiency caused by compound heterozygous mutations.

Chen Y et al.

Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis, 2024

The spectrum of factor XI deficiency in Southeast China: four recurrent variants can explain most of the deficiencies.

Zhang K et al.

Orphanet Journal of Rare Diseases, 2024

[Molecular mechanism analysis of a family with hereditary coagulation F Ⅺ deficiency caused by compound heterozygous mutations].

Chen Y et al.

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2024

Analysis of 272 Genetic Variants in the Upgraded Interactive FXI Web Database Reveals New Insights into FXI Deficiency.

Harris VA et al.

Th Open : Companion Journal to Thrombosis and Haemostasis, 2021

[Analysis of the molecular pathogenesis and clinical phenotypes of 10 patients with inherited coagulation factor Ⅺ deficiency].

Li SX et al.

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2020

A novel mutation (Tyr503Cys) in a severe factor XI deficiency.

Su K et al.

Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis, 2018

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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."