Varaico: Literature-Extracted Genetic Variants

Gene:F13B
Variant:p.P448S
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F13B

NM_001994.3:p.P448S

Associated Papers

Familial Multiple Coagulation Factor Deficiencies (FMCFDs) in a Large Cohort of Patients-A Single-Center Experience in Genetic Diagnosis.

Preisler B et al.

Journal of Clinical Medicine, 2021

Structural and functional influences of coagulation factor XIII subunit B heterozygous missense mutants.

Thomas A et al.

Molecular Genetics & Genomic Medicine, 2015

In vitro secretion deficits are common among human coagulation factor XIII subunit B missense mutants: correlations with patient phenotypes and molecular models.

Biswas A et al.

Human Mutation, 2013

Mutations affecting disulphide bonds contribute to a fairly common prevalence of F13B gene defects: results of a genetic study in 14 families with factor XIII B deficiency.

Ivaskevicius V et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2010

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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."