Varaico: Literature-Extracted Genetic Variants

Gene:F13A1
Variant:p.L530P
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F13A1

NM_000129.4:p.L530P

Associated Papers

Novel Insights into Heterozygous Factor XIII Deficiency.

Dorgalaleh A

Seminars in Thrombosis and Hemostasis, 2024

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

Javed H et al.

Blood Reviews, 2023

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."