Varaico: Literature-Extracted Genetic Variants

Gene:F12
Variant:p.V598_Y599delFs
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F12

NM_000505.4:p.V598_Y599delFs

Associated Papers

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 a Chinese pedigree affected with Hereditary FⅫ deficiency due to compound heterozygous variants of F12 gene].

Ye J et al.

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

Analysis of an Inherited FXII Deficiency Pedigree Associated with Double Heterozygous Mutations in the F12 Gene.

Zeng M et al.

Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2023

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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."