Varaico: Literature-Extracted Genetic Variants

Gene:F9
Variant:p.Q241_V242Splc
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F9

NM_000133.4:p.Q241_V242Splc

Associated Papers

Identification of five novel variants of haemophilia B in 32 patients in Shanxi province, China.

Zhang X et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2020

Genetic determinants of immunogenicity to factor IX during the treatment of haemophilia B.

Saini S et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2015

Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.

Caminsky N et al.

F1000research, 2014

25717368 (PubMed )
Supplement: f1000research-3-6038-s0000.tgz › e0d3facd-5877-477e-9217-8c5aa68746f2_Supplementary-Tables-11112014.zip › Supplementary-Tables-and-Figures-11112014 › Supplementary_Table_4._Deleterious_Natural_Site_Variantsv3.xlsx › Supplementary_Table_4

Factor VII deficiency: clinical manifestation of 717 subjects from Europe and Latin America with mutations in the factor 7 gene.

Herrmann FH et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2009

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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."