Varaico: Literature-Extracted Genetic Variants

Gene:F7
Variant:p.V22I
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F7

NM_019616.4:p.V22I

Associated Papers

A novel compound heterozygous mutation (c.64G > A and c.506-1G > A) associated with congenital coagulation factor VII deficiency: a case report and literature review.

Jiao Y et al.

Annals of Hematology, 2025

Molecular and clinical profile of rare bleeding disorders: A single-center retrospective study.

Moghadam AA et al.

Transfusion and Apheresis Science : Official Journal of the World Apheresis Association : Official Journal of the European Society for Haemapheresis, 2024

Frequency of the p.Thr241Asn mutation in Chinese patients with congenital factor VII deficiency.

Zhou P et al.

Thrombosis Research, 2024

Genetic Landscape of Factor VII Deficiency: Insights from a Comprehensive Analysis of Pathogenic Variants and Their Impact on Coagulation Activity.

Preisler B et al.

International Journal of Molecular Sciences, 2024

38397060 (PubMed )
Supplement: ijms-25-02384-s001.zip › ijms-2842726-supplementary.xlsx › Tabl1

Genotype-Phenotype Relationship among 785 Unrelated White Women with Inherited Congenital Factor VII Deficiency: A Three-Center Database Study.

Halimeh S et al.

Journal of Clinical Medicine, 2023

38202056 (PubMed )
Supplement: jcm-13-00049-s001.zip › jcm-2671474-supplementary.pdf

Molecular Genetic Analysis of Russian Patients with Coagulation Factor FVII Deficiency.

Pshenichnikova O et al.

Genes, 2023

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

Hereditary coagulation factor VII deficiency caused by novel compound heterozygous mutations in a Chinese pedigree: A case report.

Cai R et al.

Journal of Clinical Laboratory Analysis, 2023

Extensive genetic screening of Iranian Factor FVII-deficient individuals unraveled several novel mutations and postulated founder effects in some cases.

Ravanbod S et al.

Research and Practice in Thrombosis and Haemostasis, 2023

Utility of ACMG classification to support interpretation of molecular genetic test results in patients with factor VII deficiency.

Alesci RS et al.

Frontiers in Medicine, 2023

37521340 (PubMed )
Supplement: Table_3.pdf

Phenotypic and genotypic characterization of two factor VII deficiency patients from southeastern China.

Wang A et al.

Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis, 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

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

S S et al.

Balkan Journal of Medical Genetics : Bjmg, 2017

[A pedigree analysis of pulmonary embolism caused by compound heterozygous mutations of protein C].

Ye X et al.

Nan Fang Yi Ke Da Xue Xue Bao = Journal of Southern Medical University, 2012

Factor VII deficiency and the FVII mutation database.

McVey JH et al.

Human Mutation, 2001

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

Wulff K et al.

Human Mutation, 2000

Molecular biology and clinical manifestation of hereditary factor VII deficiency.

Herrmann FH et al.

Seminars in Thrombosis and Hemostasis, 2000

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