Varaico: Literature-Extracted Genetic Variants

Gene:F12
Variant:p.D270_N271del1
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F12

NM_000505.4:p.D270_N271del1

Associated Papers

Genetic analysis for an inherited coagulation factor XII deficiency pedigree.

Wu C et al.

Hematology (amsterdam, Netherlands), 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

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

Konrath S et al.

Hamostaseologie, 2021

Double Heterozygous Mutations (Cys247Tyr and 252delAsn) Cause Factor XII Deficiency in a Chinese Family.

Wang Y et al.

Hamostaseologie, 2020

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