Varaico: Literature-Extracted Genetic Variants

Gene:F13A1
Variant:p.R175*
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F13A1

NM_000129.4:p.R175*

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

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

Pathogenicity analysis of variations and prenatal diagnosis in a hereditary coagulation factor XIII deficiency family.

Sun L et al.

Hematology (amsterdam, Netherlands), 2018

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

Mutations in coagulation factor XIII subunit A in severe factor XIII deficiency patients: five novel mutations detected.

Shanbhag S et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2011

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