Varaico: Literature-Extracted Genetic Variants

Gene:F10
Variant:p.C172delFs
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F10

NM_000504.4:p.C172delFs

Associated Papers

Five new F10 variants in hereditary factor x deficiency detected by high-throughput sequencing.

Pastoret C et al.

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

Analysis of 180 Genetic Variants in a New Interactive FX Variant Database Reveals Novel Insights into FX Deficiency.

Harris VA et al.

Th Open : Companion Journal to Thrombosis and Haemostasis, 2021

Genetic analysis of a compound heterozygous patient with congenital factor X deficiency and regular replacement therapy with a prothrombin complex concentrate.

Togashi T et al.

International Journal of Hematology, 2020

Six novel mutations including triple heterozygosity for Phe31Ser, 514delT and 516T-->G factor X gene mutations are responsible for congenital factor X deficiency in patients of Nepali and Indian origin.

Jayandharan G et al.

Journal of Thrombosis and Haemostasis : Jth, 2005

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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."