Varaico: Literature-Extracted Genetic Variants

Gene:F10
Variant:p.V424F
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F10

NM_000504.4:p.V424F

Associated Papers

[Genetic analysis of a family with inheritary coagulation factor Ⅹ deficiency due to compound heterozygous variants p.Phe71Ser and p.Val424Phe].

Lin S et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2025

Molecular mechanism of a novel Ser362Asn mutation causing inherited FX deficiency in a Chinese family.

Zhang X et al.

International Journal of Hematology, 2020

Congenital coagulation factor X deficiency: Genetic analysis of five patients and functional characterization of mutant factor X proteins.

Nagaya S et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 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."