Varaico: Literature-Extracted Genetic Variants

Gene:F8
Variant:p.H634R
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F8

NM_000132.4:p.H634R

Associated Papers

Integrating Next-Generation Sequencing Into Routine Molecular Diagnosis of Inherited Coagulation Factor Deficiencies: Real-World Data From Spanish Patients.

Borràs N et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2025

40577417 (PubMed )
Supplement: HAE-31-734-s001.pdf

The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.

Yanus GA et al.

International Journal of Molecular Sciences, 2024

Northern origin of the BRCA2 c.5286 T > G founder allele.

Yanus GA et al.

Breast Cancer Research and Treatment, 2024

A founder effect in hemophilia A patients from Russian Ural region with a new p.(His634Arg) variant in F8 gene.

Salomashkina VV et al.

Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis, 2022

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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."