Varaico: Literature-Extracted Genetic Variants

Gene:F9
Variant:p.A380D
Back to variants list

F9

NM_000133.4:p.A380D

Associated Papers

Clinical Implications of Discrepancy between One-Stage Clotting and Chromogenic Factor IX Activity in Hemophilia B.

Schmidt DE et al.

Thrombosis and Haemostasis, 2024

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

Hemophilia B is a quasi-quantitative condition with certain mutations showing phenotypic plasticity.

Chavali S et al.

Genomics, 2009

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."