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A small gene sequencing panel realises a high diagnostic rate in patients with congenital nystagmus following basic phenotyping.
O'Gorman L, Norman CS, Michaels L, Newall T, Crosby AH, Mattocks C, Cree AJ, Lotery AJ, Baple EL, Ratnayaka JA, Baralle D, Lee H, Osborne D, Shawkat F, Gibson J, Ennis S, Self JE. O'Gorman L, et al. Among authors: lee h. Sci Rep. 2019 Sep 13;9(1):13229. doi: 10.1038/s41598-019-49368-7. Sci Rep. 2019. PMID: 31519934 Free PMC article.
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