Varaico: Literature-Extracted Genetic Variants

Gene:F7
Variant:p.G247Splc
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F7

NM_019616.4:p.G247Splc

Associated Papers

Molecular Characterization of Iranian Patients with Inherited Coagulation Factor VII Deficiency.

S S et al.

Balkan Journal of Medical Genetics : Bjmg, 2017

Revisiting the morbid genome of Mendelian disorders.

Abouelhoda M et al.

Genome Biology, 2016

27884173 (PubMed )
Supplement: 13059_2016_1102_MOESM5_ESM.pdf

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

Li R et al.

Zhonghua Yi Xue Za Zhi, 2015

The paradoxical association between inherited factor VII deficiency and venous thrombosis.

Marty S et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2008

Characterisation of a large complex intragenic re-arrangement in the FVII gene (F7) avoiding misdiagnosis in inherited factor VII deficiency.

Giansily-Blaizot M et al.

British Journal of Haematology, 2007

Autosomal recessive deficiencies of coagulation factors.

Peyvandi F et al.

Reviews in Clinical and Experimental Hematology, 2001

Twenty two novel mutations of the factor VII gene in factor VII deficiency.

Wulff K et al.

Human Mutation, 2000

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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."