Varaico: Literature-Extracted Genetic Variants

Gene:F8
Variant:p.R1715Q
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F8

NM_000132.4:p.R1715Q

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

Real-World Evidence on Joint Condition in Non-Severe Hemophilia A Patients: A Multicenter Study.

Marco-Rico A et al.

Journal of Blood Medicine, 2025

Spectrum of Causative Mutations in Patients with Hemophilia A in Russia.

Pshenichnikova O et al.

Genes, 2023

Compensated pathogenic variants in coagulation factors VIII and IX present complex mapping between molecular impact and hemophilia severity.

Marín Ò et al.

Scientific Reports, 2019

31267011 (PubMed )
Supplement: 41598_2019_45916_MOESM2_ESM.xlsx › Variants_used

Molecular diagnosis of haemophilia A at Centro Hospitalar de Coimbra in Portugal: study of 103 families--15 new mutations.

Silva Pinto C et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2012

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