Varaico: Literature-Extracted Genetic Variants

Gene:F7
Variant:p.A304V
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F7

NM_000131.4:p.A304V

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

Molecular Genetic Analysis of Russian Patients with Coagulation Factor FVII Deficiency.

Pshenichnikova O et al.

Genes, 2023

Whole-exome sequencing analyses in a Saudi Ischemic Stroke Cohort reveal association signals, and shows polygenic risk scores are related to Modified Rankin Scale Risk.

Alkhamis FA et al.

Functional & Integrative Genomics, 2023

36973604 (PubMed )
Supplement: 10142_2023_1039_MOESM1_ESM.xlsx › all_variants

Lethal variants in humans: lessons learned from a large molecular autopsy cohort.

Shamseldin HE et al.

Genome Medicine, 2021

34645488 (PubMed )
Supplement: 13073_2021_973_MOESM1_ESM.xlsx › Sheet1

The EAHAD blood coagulation factor VII variant database.

Giansily-Blaizot M et al.

Human Mutation, 2020

Molecular Characterization of Iranian Patients with Inherited Coagulation Factor VII Deficiency.

S S et al.

Balkan Journal of Medical Genetics : Bjmg, 2017

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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."