Varaico: Literature-Extracted Genetic Variants

Gene:F13A1
Variant:p.R704Q
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F13A1

NM_000129.4:p.R704Q

Associated Papers

Factor XIII deficiency due to compound heterozygosity for 2 F13A1 variants.

Odame J et al.

Research and Practice in Thrombosis and Haemostasis, 2025

Novel Insights into Heterozygous Factor XIII Deficiency.

Dorgalaleh A

Seminars in Thrombosis and Hemostasis, 2024

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

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

Coagulation Factor XIIIA Subunit Missense Mutations Affect Structure and Function at the Various Steps of Factor XIII Action.

Thomas A et al.

Human Mutation, 2016

Eight novel F13A1 gene missense mutations in patients with mild FXIII deficiency: in silico analysis suggests changes in FXIII-A subunit structure/function.

Biswas A et al.

Annals of Hematology, 2014

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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."