Varaico: Literature-Extracted Genetic Variants

Gene:F7
Variant:p.D302N
Back to variants list

F7

NM_000131.4:p.D302N

Associated Papers

Genetic Landscape of Factor VII Deficiency: Insights from a Comprehensive Analysis of Pathogenic Variants and Their Impact on Coagulation Activity.

Preisler B et al.

International Journal of Molecular Sciences, 2024

Structural and functional characterization of novel F7 mutations identified in Chinese factor VII-deficient patients.

Lou C et al.

British Journal of Haematology, 2023

Molecular spectrum of inherited FVII deficiency in North India revealed a recurrent variant with a founder effect.

Sharma R et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2023

The EAHAD blood coagulation factor VII variant database.

Giansily-Blaizot M et al.

Human Mutation, 2020

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."