Associated Papers
Distribution of Thrombophilia-Related Genetic Polymorphisms in Women with Reproductive Disorders.
Kurmanova A et al.
Biomedicines, 2026
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
Whole-Exome Sequencing in a Family with an Unexplained Tendency for Venous Thromboembolism: Multicomponent Prediction of Low-Frequency Variant Deleteriousness and of Individual Protein Interaction.
Lunghi B et al.
International Journal of Molecular Sciences, 2023
Molecular Genetic Analysis of Russian Patients with Coagulation Factor FVII Deficiency.
Pshenichnikova O et al.
Genes, 2023
Molecular spectrum of inherited FVII deficiency in North India revealed a recurrent variant with a founder effect.
Sharma R et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2023
Utility of ACMG classification to support interpretation of molecular genetic test results in patients with factor VII deficiency.
Alesci RS et al.
Frontiers in Medicine, 2023
Genetic causes of haemophilia in women and girls.
Miller CH et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2021
The EAHAD blood coagulation factor VII variant database.
Giansily-Blaizot M et al.
Human Mutation, 2020
Next-generation sequencing and recombinant expression characterized aberrant splicing mechanisms and provided correction strategies in factor VII deficiency.
Ferraresi P et al.
Haematologica, 2020
Homozygous mutation in ELMO2 may cause Ramon syndrome.
Mehawej C et al.
Clinical Genetics, 2018
Two new double mutant alleles of the F7 gene and a literature review on alleles with two mutations in FVII deficiency.
Giansily-Blaizot M et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2016
The molecular basis of low activity levels of coagulation factor VII: a Brazilian cohort.
Rabelo FY et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2015
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
[Analysis of the gene mutation in an inherited FVII deficiency patient].
Li R et al.
Zhonghua Yi Xue Za Zhi, 2015
Congenital combined deficiency of coagulation factors VII and X--different genetic mechanisms.
Pavlova A et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2015
Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.
Cooper DN et al.
Human Genetics, 2013
[Analysis of an inherited FVII deficiency pedigree caused by homozygosity of Thr359Met].
Chu HY et al.
Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2003