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The EAHAD blood coagulation factor VII variant database (2020)
Journal Article
Kemball-Cook, G., Giansily-Blaizot, M., Giansily‐Blaizot, M., Rallapalli, P. M., Perkins, S. J., Kemball‐Cook, G., …McVey, J. H. (2020). The EAHAD blood coagulation factor VII variant database. Human Mutation, 41(7), 1209-1219. https://doi.org/10.1002/humu.24025

Hereditary blood coagulation factor VII (FVII) deficiency is a rare autosomal recessive bleeding disorder resulting from variants in the gene encoding FVII (F7 ). Integration of genetic variation with functional consequences on protein function is es... Read More about The EAHAD blood coagulation factor VII variant database.

A bioinformatics toolkit: in silico tools and online resources for investigating genetic variation (2019)
Journal Article
Webster, S. J., Aldossary, M. A., & Hampshire, D. J. (2019). A bioinformatics toolkit: in silico tools and online resources for investigating genetic variation. Seminars in Thrombosis and Hemostasis, 45(7), 674-684. https://doi.org/10.1055/s-0039-1692978

With the advent of large-scale next-generation sequencing initiatives, there is an increasing importance to interpret and understand the potential phenotypic influence of identified genetic variation and its significance in the human genome. Bioinfor... Read More about A bioinformatics toolkit: in silico tools and online resources for investigating genetic variation.