Varaico: Literature-Extracted Genetic Variants

Gene:F13A1
Variant:p.R662*
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F13A1

NM_000129.4:p.R662*

Associated Papers

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

Rare variants and HLA haplotypes associated in patients with neuromyelitis optica spectrum disorders.

Tabansky I et al.

Frontiers in Immunology, 2022

36268024 (PubMed )
Supplement: Table_1.xlsx › Supplementary_Table_1

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

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

[Identification of genetic defects in a Chinese pedigree with factor XIII deficiency: case report and literature review].

Xu G et al.

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2015

Novel and recurrent mutations in the F13A1 gene in unrelated Korean patients with congenital factor XIII deficiency.

Jang MA et al.

Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis, 2015

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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."