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- W2147371566 abstract "At the most basic level, the time was finally right; the technology existed to do whole-genome sequencing without it being prohibitively expensive. Computers and servers could handle the massive amount of data, and the software was being developed to analyze the sequencing data. And yet, the journey actually stretches back decades, and right up until the moment that the long-time hypothesis was proven correct, success was far from certain. The facts of the causative somatic mosaic mutation in GNAQ have been reported in a recent edition of the New England Journal of Medicine1 Shirley M.D. Tang H. Gallione C. et al. A GNAQ somatic mutation causes Sturge-Weber syndrome and port-wine stains. New Engl J Med. 2013; 368: 1971-1979 Crossref PubMed Scopus (704) Google Scholar ; here, we tell the story of the discovery. We aim to inspire researchers to take up the challenge of the many syndromes about which the cause is poorly understood. If we can also satisfy both the interest of those who want to know the story and the pleasure that we have in telling it, all the better." @default.
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- W2147371566 date "2013-12-01" @default.
- W2147371566 modified "2023-10-05" @default.
- W2147371566 title "A Needle in a Haystack: Sturge-Weber Syndrome Gene Discovery" @default.
- W2147371566 cites W2144420455 @default.
- W2147371566 doi "https://doi.org/10.1016/j.pediatrneurol.2013.07.009" @default.
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