Varaico: Literature-Extracted Genetic Variants

Gene:F9
Variant:p.M394I
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F9

NM_000133.4:p.M394I

Associated Papers

Genetic causes of haemophilia in women and girls.

Miller CH et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2021

Novel F8 and F9 gene variants from the PedNet hemophilia registry classified according to ACMG/AMP guidelines.

Andersson NG et al.

Human Mutation, 2020

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

Allelic heterogeneity of molecular events in human coagulation factor IX in Asian Indians. Mutation in brief #965. Online.

Mahajan A et al.

Human Mutation, 2007

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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."