Varaico: Literature-Extracted Genetic Variants

Gene:F7
Variant:p.S419F
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F7

NM_019616.4:p.S419F

Associated Papers

Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.

Wang H et al.

Scientific Reports, 2025

40604033 (PubMed )
Supplement: 41598_2025_8012_MOESM1_ESM.xlsx › S3

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

The Israeli national population program of genetic carrier screening for reproductive purposes. How should it be continued?

Zlotogora J

Israel Journal of Health Policy Research, 2019

31839005 (PubMed )
Supplement: 13584_2019_345_MOESM1_ESM.xlsx › Arabs_not_Negev_Bedouins_

Long-term prophylaxis in severe factor VII deficiency.

Siboni SM et al.

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

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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."