Varaico: Literature-Extracted Genetic Variants

Gene:F12
Variant:p.H101_S102delFs
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F12

NM_000505.4:p.H101_S102delFs

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

Genetic analysis of a pedigree with hereditary coagulation factor XII deficiency.

Fang W et al.

Annals of Hematology, 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

Analysis of Hereditary FXII Deficiency Caused by Three Mutations Including a Novel Mutation

Ye L et al.

Turkish Journal of Haematology : Official Journal of Turkish Society of Haematology, 2024

[Analysis of F12 gene variants and molecular mechanisms in patients with coagulation factor Ⅻ deficiency].

Fang S et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2023

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

Konrath S et al.

Hamostaseologie, 2021

Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer.

Zeng B et al.

Frontiers in Oncology, 2021

33889545 (PubMed )
Supplement: Table_5.XLSX › Sheet1

[Genetic analysis of hereditary factor VII deficiency from a Chinese pedigree].

Wu Y et al.

Zhonghua Yi Xue Za Zhi, 2000

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