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• W3142187265 abstract "Venous thromboembolism (VTE) is a multifactorial disease. Because low-frequency variants and rare mutations have been found to predispose carriers toward VTE, there is a need for variant discovery in clinical settings. Therefore, we used a whole-exome approach for a young VTE patient with a positive family history. We identified in the proband and his affected mother a rare, functional missense variant of prothrombin, p.Arg541Trp, which contributes to the clinical picture of VTE." @default.
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• W3142187265 date "2021-03-31" @default.
• W3142187265 modified "2023-10-12" @default.
• W3142187265 title "Venous thromboembolism is caused by prothrombin p.Arg541Trp mutation in Japanese individuals" @default.
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• W3142187265 doi "https://doi.org/10.1038/s41439-021-00145-x" @default.
• W3142187265 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/8012570" @default.
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