Varaico: Literature-Extracted Genetic Variants

Gene:F11
Variant:p.C140Y
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F11

NM_000128.4:p.C140Y

Associated Papers

A focus on dominant negative variants in a series of 170 heterozygous FXI-deficient patients.

de Mazancourt P et al.

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

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

The spectrum of factor XI deficiency in Italy.

Castaman G et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2014

Severe factor XI deficiency in the Abruzzo region of Italy is associated to different FXI gene mutations.

Castaman G et al.

Haematologica, 2008

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