Varaico: Literature-Extracted Genetic Variants

Gene:F7
Variant:p.G380R
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F7

NM_019616.4:p.G380R

Associated Papers

Molecular and clinical profile of rare bleeding disorders: A single-center retrospective study.

Moghadam AA et al.

Transfusion and Apheresis Science : Official Journal of the World Apheresis Association : Official Journal of the European Society for Haemapheresis, 2024

Prevalence of bleeding manifestations in 128 heterozygotes for Factor X deficiency, mainly for FX Friuli, matched versus 128 unaffected family members, during a long sequential observation period (23.5 years).

Girolami A et al.

European Journal of Haematology, 2016

Intracranial Hemorrhage as the First Manifestation of Severe Congenital Factor X Deficiency in a 20-Month-Old Male: Case Report and Review of the Literature.

Diesch T et al.

Pediatric Blood & Cancer, 2016

The rare inherited coagulation disorders.

Bolton-Maggs PH

Pediatric Blood & Cancer, 2013

Unexplained discrepancies in the activity--antigen ratio in congenital FX deficiencies with defects in the catalytic domain.

Girolami A et al.

Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 2009

Diagnosis and treatment of inherited factor X deficiency.

Brown DL et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2008

Factor X deficiency: clinical manifestation of 102 subjects from Europe and Latin America with mutations in the factor 10 gene.

Herrmann FH et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2006

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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."