Varaico: Literature-Extracted Genetic Variants

Gene:F7
Variant:p.G247Splc
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F7

NM_019616.4:p.G247Splc

Associated Papers

Two new double mutant alleles of the F7 gene and a literature review on alleles with two mutations in FVII deficiency.

Giansily-Blaizot M et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2016

Factor VII gene intronic mutation in a lethal factor VII deficiency: effects on splice-site selection.

Borensztajn K et al.

Blood, 2003

Two novel cases of cerebral haemorrhages at the neonatal period associated with inherited factor VII deficiency, one of them revealing a new nonsense mutation (Ser52Stop).

Giansily-Blaizot M et al.

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

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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."