Varaico: Literature-Extracted Genetic Variants

Gene:F7
Variant:p.G212E
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F7

NM_019616.4:p.G212E

Associated Papers

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

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

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

Genomic characterization of lymphomas in patients with inborn errors of immunity.

Ye X et al.

Blood Advances, 2022

35687490 (PubMed )
Supplement: advancesADV2021006654-suppl12.xlsx › Blad1

The EAHAD blood coagulation factor VII variant database.

Giansily-Blaizot M et al.

Human Mutation, 2020

Molecular pathology of rare bleeding disorders (RBDs) in India: a systematic review.

Kulkarni BP et al.

Plos One, 2014

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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."