Varaico: Literature-Extracted Genetic Variants

Gene:F7
Variant:p.V22Splc
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F7

NM_019616.4:p.V22Splc

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

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

Pshenichnikova O et al.

Genes, 2023

Acute Thrombotic Events in Association With Coronavirus Disease of 2019 Immunization as Initial Presentation of Congenital Factor VII Deficiency.

Trillo A et al.

Journal of Pediatric Hematology/oncology, 2023

Molecular spectrum of inherited FVII deficiency in North India revealed a recurrent variant with a founder effect.

Sharma R et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 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_1.pdf

The EAHAD blood coagulation factor VII variant database.

Giansily-Blaizot M et al.

Human Mutation, 2020

[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."