Estimating the frequencies of pathogenic variants of antithrombin, protein C, and protein S using a public database and expression experiments
Author:
Affiliation:
1. 国立循環器病研究センター分子病態部
Publisher
Japanese Society on Thrombosis and Hemostasis
Subject
General Medicine
Link
https://www.jstage.jst.go.jp/article/jjsth/32/5/32_2021_JJTH_32_5_635-637/_pdf
Reference11 articles.
1. 1) Coppola A, Tufano A, Cerbone AM, et al.: Inherited thrombophilia: Implications for prevention and treatment of venous thromboembolism. Semin Thromb Hemost 35: 683–694, 2009.
2. 2) Maruyama K, Kokame K: Carrier frequencies of antithrombin, protein C, and protein S deficiency variants estimated using a public database and expression experiments. Res Pract Thromb Haemost 5: 179–186, 2020.
3. 3) Lek M, Karczewski KJ, Minikel EV, et al.: Analysis of protein-coding genetic variation in 60,706 humans. Nature 536: 285–291, 2016.
4. 4) Karczewski KJ, Francioli LC, Tiao G, et al.: The mutational constraint spectrum quantified from variation in 141,456 humans. Nature 581: 434–443, 2020.
5. 5) Tadaka S, Hishinuma E, Komaki S, et al.: jMorp updates in 2020: Large enhancement of multi-omics data resources on the general Japanese population. Nucleic Acids Res 49: D536–D544, 2021.
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