Varaico: Literature-Extracted Genetic Variants

Gene:F9
Variant:p.E340K
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F9

NM_000133.4:p.E340K

Associated Papers

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_MOESM3_ESM.xlsx › Sheet1

Vascular Ehlers-Danlos syndrome mutations in type III collagen differently stall the triple helical folding.

Mizuno K et al.

The Journal of Biological Chemistry, 2013

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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."