Varaico: Literature-Extracted Genetic Variants

Gene:F8
Variant:p.I585T
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F8

NM_000132.4:p.I585T

Associated Papers

Cell-Based Small-Molecule Screening Identifying Proteostasis Regulators Enhancing Factor VIII Missense Mutant Secretion.

Srivastava V et al.

Biomolecules, 2025

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 mechanisms of missense mutations that generate ectopic N-glycosylation sites in coagulation factor VIII.

Wei W et al.

The Biochemical Journal, 2018

Sixteen novel hemophilia A causative mutations in the first Argentinian series of severe molecular defects.

Rossetti LC et al.

Haematologica, 2007

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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."