Varaico: Literature-Extracted Genetic Variants

Gene:F11
Variant:p.T51I
Back to variants list

F11

NM_000128.4:p.T51I

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

Coexistence of Spinal Muscular Atrophy Type 1 and Factor X1 Deficiency.

Kaya G et al.

Journal of Pediatric Hematology/oncology, 2022

Genetic analysis in FXI deficient patients from northwestern Italy: three novel and one recurrent mutation.

Bicocchi MP et al.

European Journal of Haematology, 2013

Seven novel point mutations in the F11 gene in Iranian FXI-deficient patients.

Fard-Esfahani P et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2008

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."