Varaico: Literature-Extracted Genetic Variants

Gene:F11
Variant:p.C46*
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F11

NM_000128.4:p.C46*

Associated Papers

Understanding Congenital FXI Deficiency: Genetic Diagnosis and Correlation of Variant Detection Rate to Factor XI Activity.

Pezeshkpoor B et al.

Hamostaseologie, 2025

Factor 11 single-nucleotide variants in women with heavy menstrual bleeding.

Wiewel-Verschueren S et al.

Journal of Obstetrics and Gynaecology : the Journal of the Institute of Obstetrics and Gynaecology, 2017

A common ancestral mutation (C128X) occurring in 11 non-Jewish families from the UK with factor XI deficiency.

Bolton-Maggs PH et al.

Journal of Thrombosis and Haemostasis : Jth, 2004

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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."