Varaico: Literature-Extracted Genetic Variants

Gene:F7
Variant:p.K376*
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F7

NM_000131.4:p.K376*

Associated Papers

Genotype and phenotype correlation in intracranial hemorrhage in neonatal factor VII deficiency among Thai children.

Traivaree C et al.

The Application of Clinical Genetics, 2017

Differential functional readthrough over homozygous nonsense mutations contributes to the bleeding phenotype in coagulation factor VII deficiency.

Branchini A et al.

Journal of Thrombosis and Haemostasis : Jth, 2016

Natural and engineered carboxy-terminal variants: decreased secretion and gain-of-function result in asymptomatic coagulation factor VII deficiency.

Branchini A et al.

Haematologica, 2012

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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."