Varaico: Literature-Extracted Genetic Variants

Gene:F11
Variant:p.W519C
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F11

NM_000128.4:p.W519C

Associated Papers

Expanding families: a pilot study on preconception expanded carrier screening in Bahrain.

Skrypnyk C et al.

Bmc Pregnancy and Childbirth, 2024

The spectrum of factor XI deficiency in Southeast China: four recurrent variants can explain most of the deficiencies.

Zhang K et al.

Orphanet Journal of Rare Diseases, 2024

Genetic analysis of compound heterozygous pathogenic variants of the F11 gene in two Chinese patients with hereditary factor XI deficiency.

Wang H et al.

Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis, 2022

Analysis of 272 Genetic Variants in the Upgraded Interactive FXI Web Database Reveals New Insights into FXI Deficiency.

Harris VA et al.

Th Open : Companion Journal to Thrombosis and Haemostasis, 2021

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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."