Varaico: Literature-Extracted Genetic Variants

Gene:F2
Variant:p.F283L
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F2

NM_000506.5:p.F283L

Associated Papers

A Case Report on an Extremely Rare Disease: Factor XI Deficiency.

Mandal S et al.

Cureus, 2020

Analysis of sequence variability in the pig CART gene and association of polymorphism with fatness traits in a F2 population.

Zhu X et al.

Molecular Biology Reports, 2014

A case of factor XI deficiency caused by compound heterozygous F11 gene mutation.

Wang J et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2009

Factor XI gene mutations in factor XI deficient patients of the Czech Republic.

Castaman G et al.

American Journal of Hematology, 2008

Inhibitors to Factor XI in patients with severe Factor XI deficiency.

Salomon O et al.

Seminars in Hematology, 2006

A common ancestral mutation (C128X) occurring in 11 non-Jewish families from the UK with factor XI deficiency.

Bolton-Maggs PH et al.

Journal of Thrombosis and Haemostasis : Jth, 2004

Factor XI deficiency--from molecular genetics to clinical management.

O'Connell NM

Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis, 2003

Activation of factor VII during alimentary lipemia occurs in healthy adults and patients with congenital factor XII or factor XI deficiency, but not in patients with factor IX deficiency.

Miller GJ et al.

Blood, 1996

[The heterogeneity of hereditary disorders of blood coagulation].

Seligsohn U

Harefuah, 1974

Genetic counseling in hereditary disorders of blood coagulation.

Kerr CB

Modern Treatment, 1968

[Physiological examination of blood coagulation in six familial cases of hereditary hemorrhagic teleangiectasis (morbus Osler) with disorders of platelets and of coagulation].

HODL H

Das Deutsche Gesundheitswesen, 1954

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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."