Varaico: Literature-Extracted Genetic Variants

Gene:F9
Variant:p.E73K
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F9

NM_000133.4:p.E73K

Associated Papers

F9 missense variant hot spots associated with qualitative protein defects causing hemophilia B.

van Duijl TT et al.

Blood Vessels, Thrombosis & Hemostasis, 2025

RAD51D Aberrant Splicing in Breast Cancer: Identification of Splicing Regulatory Elements and Minigene-Based Evaluation of 53 DNA Variants.

Bueno-Martínez E et al.

Cancers, 2021

34200360 (PubMed )
Supplement: cancers-13-02845-s001.zip › cancers-1205645-supplementary.pdf

Splicing dysregulation contributes to the pathogenicity of several F9 exonic point variants.

Katneni UK et al.

Molecular Genetics & Genomic Medicine, 2019

31257730 (PubMed )
Supplement: MGG3-7-e840-s002.xls › F9_Splicing_Data
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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."