Varaico: Literature-Extracted Genetic Variants

Gene:F5
Variant:p.G304_K305insFs
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F5

NM_000130.5:p.G304_K305insFs

Associated Papers

A distinct common p.Gln317* mutation among causative LMAN1 genetic mutations of combined factor V and factor VIII deficiency in five Taiwanese families.

Lin HY et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2022

Molecular analysis of the ERGIC-53 gene in 35 families with combined factor V-factor VIII deficiency.

Neerman-Arbez M et al.

Blood, 1999

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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."