Varaico: Literature-Extracted Genetic Variants

Gene:F11
Variant:p.V516M
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F11

NM_000128.4:p.V516M

Associated Papers

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

Ren J et al.

Human Genetics, 2026

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

The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.

Stefanucci L et al.

Blood, 2023

37647632 (PubMed )
Supplement: BLOOD_BLD-2023-020118-mmc3.xlsx › ST3.4

A Common Missense Variant Causing Factor XI Deficiency and Increased Bleeding Tendency in Maine Coon Cats.

Kuder H et al.

Genes, 2022

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

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

Population-specific spectrum of the F11 mutations in Koreans: evidence for a founder effect.

Kim J et al.

Clinical Genetics, 2012

Severe factor XI deficiency in a Korean woman with a novel missense mutation (Val498Met) and duplication G mutation in exon 13 of the F11 gene.

Kwon MJ et al.

Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis, 2008

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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."