Varaico: Literature-Extracted Genetic Variants

Gene:F12
Variant:p.G561S
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F12

NM_000505.4:p.G561S

Associated Papers

A novel homozygous frameshift mutation (p.Lys365Glnfs*69) in a family with hereditary factor XII deficiency: a case report.

Li C et al.

Journal of Hematopathology, 2025

Clinical and genetic spectrum of factor XII deficiency in the Han population of East China.

Xu F et al.

Orphanet Journal of Rare Diseases, 2024

[Pedigree Analysis of Hereditary Coagulation Factor XII Deficiency Caused by Compound Heterozygous Mutation p.Gly175Cys and p.Gly542Ser of F12 Gene].

Cheng XL et al.

Zhongguo Shi Yan Xue Ye Xue Za Zhi, 2024

Characterization of congenital factor XII deficiency in Taiwanese patients: identification of one novel and one common mutation.

Chou SC et al.

International Journal of Hematology, 2022

Mechanism, Functions, and Diagnostic Relevance of FXII Activation by Foreign Surfaces.

Konrath S et al.

Hamostaseologie, 2021

Genetic analysis of a novel missense mutation (Gly542Ser) with factor XII deficiency in a Chinese patient of consanguineous marriage.

Zou A et al.

International Journal of Hematology, 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."