Varaico: Literature-Extracted Genetic Variants

Gene:F13A1
Variant:p.R172*
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F13A1

NM_000129.4:p.R172*

Associated Papers

Congenital Factor XIII Deficiency in Taiwan: A Novel F13A1 p.Lys113* Variant Identified in a Patient With an Inhibitor and Our Experience to Induce Immune Tolerance.

Lin HY et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2025

Integrating Next-Generation Sequencing Into Routine Molecular Diagnosis of Inherited Coagulation Factor Deficiencies: Real-World Data From Spanish Patients.

Borràs N et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2025

40577417 (PubMed )
Supplement: HAE-31-734-s001.pdf

The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.

Stefanucci L et al.

Blood, 2023

37647632 (PubMed )
Supplement: BLOOD_BLD-2023-020118-mmc3.xlsx › ST3.4

Genetic landscape in coagulation factor XIII associated defects - Advances in coagulation and beyond.

Javed H et al.

Blood Reviews, 2023

Factor XIII deficiency in two Spanish families with a novel variant in gene F13A1 detected by next-generation sequencing; symptoms and clinical management.

Moret A et al.

Journal of Thrombosis and Thrombolysis, 2020

Comparison of F13A1 gene mutations in 73 patients treated with recombinant FXIII-A2.

Ivaškevičius V et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2017

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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."