Varaico: Literature-Extracted Genetic Variants

Gene:F8
Variant:p.S1414*
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F8

NM_000132.4:p.S1414*

Associated Papers

Nonsense Mutations in Rare and Ultra-Rare Human Disorders: An Overview.

Vitale E et al.

Iubmb Life, 2025

Comprehensive genomic filtering algorithm to expose the cause of skewed X chromosome inactivation. The proof of concept in female haemophilia expression.

Ziegler BM et al.

Journal of Medical Genetics, 2024

Molecular Mechanisms and Determinants of Innovative Correction Approaches in Coagulation Factor Deficiencies.

Balestra D et al.

International Journal of Molecular Sciences, 2019

[Value of several genetic markers in detecting heterozygous carriers of a gene for hemophilia A].

Tokarev IuN et al.

Problemy Gematologii I Perelivaniia Krovi, 1977

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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."