Varaico: Literature-Extracted Genetic Variants

Gene:F7
Variant:p.R342Q
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F7

NM_019616.4:p.R342Q

Associated Papers

A novel compound heterozygous variant linked to hematuria in a family with hereditary factor VII deficiency.

Hu YN et al.

The Journal of Gene Medicine, 2022

Compound Heterozygous Factor VII Deficiency c.1025G>A p.(Arg342Gln) With Novel Missense Variant c.194C>G p.(Ala65Gly).

Gallardo CA et al.

Journal of Hematology, 2022

The QChip1 knowledgebase and microarray for precision medicine in Qatar.

Rodriguez-Flores JL et al.

Npj Genomic Medicine, 2022

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

Zhang X et al.

Journal of Clinical Laboratory Analysis, 2021

Diagnosis and treatment discussion of congenital factor VII deficiency in pregnancy: A case report.

Yang Y et al.

World Journal of Clinical Cases, 2021

Biochemical, molecular and clinical aspects of coagulation factor VII and its role in hemostasis and thrombosis.

Bernardi F et al.

Haematologica, 2021

Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer.

Zeng B et al.

Frontiers in Oncology, 2021

33889545 (PubMed )
Supplement: Table_5.XLSX › Sheet1

The EAHAD blood coagulation factor VII variant database.

Giansily-Blaizot M et al.

Human Mutation, 2020

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

S S et al.

Balkan Journal of Medical Genetics : Bjmg, 2017

Rare and low-frequency variants and their association with plasma levels of fibrinogen, FVII, FVIII, and vWF.

Huffman JE et al.

Blood, 2015

The molecular basis of low activity levels of coagulation factor VII: a Brazilian cohort.

Rabelo FY et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2015

[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

[Analysis of an inherited FVII deficiency pedigree caused by homozygosity of Thr359Met].

Chu HY et al.

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2003

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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."