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Genetic diagnosis of *CYP21A2*-related CAH: adaptive sampling long-read sequencing is an accurate and scalable solution

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  • shared.published_on: January 22 2026
  • shared.source: European Journal of Human Genetics
resources.authors: Dorte Launholt Lildballe, Morten Reiffenstein Huno, Lukas Ochsner Reynaud Ridder, Camilla Mains Balle, Simon Opstrup Drue, Agnethe Berglund, Morten Dunø, Ebbe Norskov Bak, Mette Hansen Viuff, Laura Skak Rasmussen, Claus Højbjerg Gravholt

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