Varaico: Literature-Extracted Genetic Variants

Gene:F11
Variant:p.R72*
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F11

NM_000128.4:p.R72*

Associated Papers

Clinical characteristics and genetic variant spectrum of 27 patients with coagulation factor XI deficiency.

Ren J et al.

Human Genetics, 2026

The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.

Stefanucci L et al.

Blood, 2023

37647632 (PubMed )
Supplement: BLOOD_BLD-2023-020118-mmc3.xlsx › ST3.4

Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese.

Chau JFT et al.

Npj Genomic Medicine, 2022

35314707 (PubMed )
Supplement: 41525_2022_287_MOESM3_ESM.xlsx › SNV

Molecular investigation of 41 patients affected by coagulation factor XI deficiency.

Rimoldi V et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2018

Genetic analysis in Factor XI deficient patients from central China: identification of one novel and seven recurrent mutations.

Liu H et al.

Gene, 2015

The spectrum of factor XI deficiency in Italy.

Castaman G et al.

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

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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."