Varaico: Literature-Extracted Genetic Variants

Gene:F8
Variant:p.E1848K
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F8

NM_000132.4:p.E1848K

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

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

Haemophilia A mutations in the UK: results of screening one-third of the population.

Green PM et al.

British Journal of Haematology, 2008

Severe and moderate hemophilia A: identification of 38 new genetic alterations.

Casaña P et al.

Haematologica, 2008

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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."