Varaico: Literature-Extracted Genetic Variants

Gene:F11
Variant:p.W519S
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F11

NM_000128.4:p.W519S

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

[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

[Identification of compound heterozygous mutations of F11 gene in a pedigree affected with heriditary coagulation factor XI deficiency].

Liu M et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2019

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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."