Varaico: Literature-Extracted Genetic Variants

Gene:F7
Variant:p.R462*
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F7

NM_000131.4:p.R462*

Associated Papers

Novel factor VII gene mutations in six families with hereditary coagulation factor VII deficiency.

Zhang X et al.

Journal of Clinical Laboratory Analysis, 2021

The EAHAD blood coagulation factor VII variant database.

Giansily-Blaizot M et al.

Human Mutation, 2020

Differential functional readthrough over homozygous nonsense mutations contributes to the bleeding phenotype in coagulation factor VII deficiency.

Branchini A et al.

Journal of Thrombosis and Haemostasis : Jth, 2016

Natural and engineered carboxy-terminal variants: decreased secretion and gain-of-function result in asymptomatic coagulation factor VII deficiency.

Branchini A et al.

Haematologica, 2012

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

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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."