Varaico: Literature-Extracted Genetic Variants

Gene:NBEAL2
Variant:p.A456V
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NBEAL2

NM_015175.3:p.A456V

Associated Papers

Novel Insights into Heterozygous Factor XIII Deficiency.

Dorgalaleh A

Seminars in Thrombosis and Hemostasis, 2024

Genetic and epigenetic features of bilateral Wilms tumor predisposition in patients from the Children's Oncology Group AREN18B5-Q.

Murphy AJ et al.

Nature Communications, 2023

38110397 (PubMed )
Supplement: 41467_2023_43730_MOESM5_ESM.xlsx › COG

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

Javed H et al.

Blood Reviews, 2023

Identification of novel pathogenic F13A1 mutation and novel NBEAL2 gene missense mutation in a pedigree with hereditary congenital factor XIII deficiency.

Jia S et al.

Gene, 2019

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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."