Varaico: Literature-Extracted Genetic Variants

Gene:F7
Variant:p.V169Splc
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F7

NM_019616.4:p.V169Splc

Associated Papers

A novel compound heterozygous mutation (c.64G > A and c.506-1G > A) associated with congenital coagulation factor VII deficiency: a case report and literature review.

Jiao Y et al.

Annals of Hematology, 2025

Inherited coagulation factor VII deficiency in Taiwan: Two novel F7 variants with relevant regional features in 33 patients.

Lin HY et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2024

Structural and functional characterization of novel F7 mutations identified in Chinese factor VII-deficient patients.

Lou C et al.

British Journal of Haematology, 2023

Factor VII deficiency in China: Phenotype, genotype and current status of management.

Qu C et al.

British Journal of Haematology, 2023

The EAHAD blood coagulation factor VII variant database.

Giansily-Blaizot M et al.

Human Mutation, 2020

[Mutation analysis and prenatal diagnosis for a family affected with congenital factor VII deficiency].

Peng W et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2016

[Identification and functional analysis of a novel missense mutation Ser250Phe underlying congenital coagulation factor Ⅶ deficiency].

Jiang MH et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2013

Using a minigene approach to characterize a novel splice site mutation in human F7 gene causing inherited factor VII deficiency in a Chinese pedigree.

Yu T et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2009

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