Varaico: Literature-Extracted Genetic Variants

Gene:F7
Variant:p.V22Splc
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F7

NM_019616.4:p.V22Splc

Associated Papers

Analysis of clinical manifestations and molecular pathogenesis of six patients with hereditary blood coagulation factor VII deficiency.

Song Y et al.

Thrombosis Research, 2025

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

Characterization of a Missense Mutation in the Catalytic Domain and a Splicing Mutation of Coagulation Factor X Compound Heterozygous in a Chinese Pedigree.

Feng Y et al.

Genes, 2021

Hemophagocytic lymphohistiocytosis and congenital factor VII deficiency: a case report.

Wang X et al.

Bmc Medical Genetics, 2018

Factor VII deficiency: clinical manifestation of 717 subjects from Europe and Latin America with mutations in the factor 7 gene.

Herrmann FH et al.

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

Autosomal recessive deficiencies of coagulation factors.

Peyvandi F et al.

Reviews in Clinical and Experimental Hematology, 2001

[Factor VII deficiency].

Kändler H et al.

Padiatrie Und Grenzgebiete, 1990

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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."