Varaico: Literature-Extracted Genetic Variants

Gene:F9
Variant:p.E291K
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F9

NM_000133.4:p.E291K

Associated Papers

Identification of Novel F9 Gene Variants in 143 Vietnamese Patients with Hemophilia B.

Bach KQ et al.

Journal of Blood Medicine, 2025

Variant spectrum of F8 and F9 in hemophilia patients from southern China and 26 novel variants.

Li F et al.

Frontiers in Genetics, 2023

Familial Multiple Coagulation Factor Deficiencies (FMCFDs) in a Large Cohort of Patients-A Single-Center Experience in Genetic Diagnosis.

Preisler B et al.

Journal of Clinical Medicine, 2021

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

Novel mutations associated with a discrepancy between one-stage and chromogenic FVIII activity assays.

Provaznikova D et al.

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

Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes.

Elsas LJ et al.

American Journal of Human Genetics, 1995

Molecular heterogeneity of glucose-6-phosphate dehydrogenase (G6PD) variants in the south of Thailand and identification of a novel variant (G6PD Songklanagarind).

Laosombat V et al.

Blood Cells, Molecules & Diseases, 0

Multiplex primer extension reaction screening and oxidative challenge of glucose-6-phosphate dehydrogenase mutants in hemizygous and heterozygous subjects.

Ko CH et al.

Blood Cells, Molecules & Diseases, 0

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