Varaico: Literature-Extracted Genetic Variants

Gene:F7
Variant:p.Q205_V206Splc
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F7

NM_019616.4:p.Q205_V206Splc

Associated Papers

Mutations of TFPI-binding exosites on factor VII cause bleeding phenotypes in factor VII deficiency.

Seanoon K et al.

Blood Advances, 2022

[Genetic analysis and clinical features of a pedigree affected with hereditary coagulation factor Ⅶ deficiency caused by compound heterozygotic mutations].

Jin Y et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2019

[Analysis of the gene mutation in an inherited FVII deficiency patient].

Li R et al.

Zhonghua Yi Xue Za Zhi, 2015

[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

[Genotype and phenotype analysis of congenital coagulator factor VII deficiency in four Chinese pedigrees].

Jiang MH et al.

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2011

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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."