Varaico: Literature-Extracted Genetic Variants

Gene:F13A1
Variant:p.S414L
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F13A1

NM_000129.4:p.S414L

Associated Papers

Exploration of the Pathogenic Mechanism of the Factor XIII A Subunit in a Patient With Congenital Factor XIII Deficiency.

Wang M et al.

Molecular Genetics & Genomic Medicine, 2026

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

First trimester prenatal diagnosis of severe FXIII deficiency.

Shanbhag S et al.

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

Genetic basis of severe factor XIII deficiency in a large cohort of Indian patients: Identification of fourteen novel mutations.

Shanbhag S et al.

Blood Cells, Molecules & Diseases, 2016

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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."