Varaico: Literature-Extracted Genetic Variants

Gene:F8
Variant:p.L2181F
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F8

NM_000132.4:p.L2181F

Associated Papers

Genetic analysis of non-severe hemophilia A phenotype with A discrepancy between one-stage and chromogenic factor VIII activity assays.

Valikhani A et al.

Transfusion and Apheresis Science : Official Journal of the World Apheresis Association : Official Journal of the European Society for Haemapheresis, 2021

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

Identification of 123 previously unreported mutations in the F8 gene of Iranian patients with haemophilia A.

Ravanbod S et al.

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

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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."