Varaico: Literature-Extracted Genetic Variants

Gene:F5
Variant:p.R2202C
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F5

NM_000130.5:p.R2202C

Associated Papers

Molecular classification of blood and bleeding disorder genes.

Baz B et al.

Npj Genomic Medicine, 2021

34272389 (PubMed )
Supplement: 41525_2021_228_MOESM1_ESM.pdf

Added Value of Clinical Sequencing: WGS-Based Profiling of Pharmacogenes.

Caspar SM et al.

International Journal of Molecular Sciences, 2020

32225115 (PubMed )
Supplement: ijms-21-02308-s001.zip › Caspar_et_al_Supplementary_Table_S1.xlsx › gnomAD_Exomes_LOF

First description of the molecular and clinical characterization of hereditary factor V deficiency in Saudi Arabia: report of four novel mutations.

Al-Numair NS et al.

Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis, 2019

Genetic Confirmation of Congenital Factor V Deficiency in Korean Patients.

Park CH et al.

Annals of Laboratory Medicine, 2016

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