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- W2980853215 abstract "The majority of extracranial arteriovenous malformations (AVMs) are caused by somatic mutations in MAP2K1. We report a somatic HRAS mutation in a patient who has a facial AVM associated with subcutaneous adipose overgrowth. We performed whole exome sequencing on DNA from the affected tissue and found a HRAS mutation (p.Thr58_Ala59delinsValLeuAspVal). Mutant allelic frequency was 5% in whole tissue and 31% in isolated endothelial cells (ECs); the mutation was not present in blood DNA or non-ECs. Somatic mutations in HRAS can cause AVM." @default.
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- W2980853215 date "2019-10-21" @default.
- W2980853215 modified "2023-09-24" @default.
- W2980853215 title "Arteriovenous malformation associated with a HRAS mutation" @default.
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- W2980853215 doi "https://doi.org/10.1007/s00439-019-02072-y" @default.
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