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Deep Learning Technology: Sebastian Arnold, Betty van Aken, Paul Grundmann, Felix A. Gers and Alexander Löser. Learning Contextualized Document Representations for Healthcare Answer Retrieval. The Web Conference 2020 (WWW'20)
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Hyperprothrombinemia is a state of high of prothrombin levels in the blood which leads to hypercoagulability. An example of a genetic cause includes the mutation prothrombin G20210A.
Prothrombin G20210A ( rs1799963) refers to condition in which a specific gene mutation increases the risk of blood clots.
The "G20210A" refers to the fact that the mutation is a guanine (G) to adenine (A) substitution at position 20210 of the DNA of the prothrombin gene. This mutation (or more accurately, single-nucleotide polymorphism or variant), is commonly associated with increased risk of occurrence and recurrence of the disease venous thromboembolism (VTE), including both deep vein thrombosis (DVT) and pulmonary embolism (PE). As of 2005, it was believed that most carriers of the mutation never develop VTE in their lifetimes. Other blood clotting pathway mutations that increase the risk of clots include factor V Leiden.
Prothrombin G20210A was identified in the 1990s, is almost exclusively present in Caucasians. It is estimated to have originated in that population slightly over 20,000 years ago. About 2 to 3% of Caucasians carry the variant.
Because prothrombin is also known as factor II, the mutation is also sometimes referred to as the factor II mutation or simply the prothrombin mutation; in either case, the names may appear with or without the accompanying G20210A location specifier (unhelpfully, since prothrombin mutations other than G20210A are known).