Varaico: Literature-Extracted Genetic Variants

Gene:F11
Variant:p.C500W
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F11

NM_000128.4:p.C500W

Associated Papers

Clinical characteristics and genetic variant spectrum of 27 patients with coagulation factor XI deficiency.

Ren J et al.

Human Genetics, 2026

A focus on dominant negative variants in a series of 170 heterozygous FXI-deficient patients.

de Mazancourt P et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2023

Phenotype and genotype analysis of patients with severe factor XI deficiency in Shaanxi Province, China.

Yuan L et al.

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

Cys482Trp missense mutation in the coagulation factor XI gene (F11) in a Korean patient with factor XI deficiency.

Choi SJ et al.

Annals of Laboratory Medicine, 2014

Spectrum of factor XI (F11) mutations in the UK population--116 index cases and 140 mutations.

Mitchell M et al.

Human Mutation, 2006

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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."