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Showing 79 - 91 of 428

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A G542X cystic fibrosis mouse model for examining nonsense mutation directed therapies

Daniel R. McHugh, Miarasa S. Steele,  [ ... ], Craig A. Hodges

Understanding variable disease severity in X-linked retinoschisis: Does RS1 secretory mechanism determine disease severity?

Dhandayuthapani Sudha, Srividya Neriyanuri,  [ ... ], Jayamuruga Pandian Arunachalam

A "late-but-fitter revertant cell" explains the high frequency of revertant mosaicism in epidermolysis bullosa

Peter C. van den Akker, Anna M. G. Pasmooij,  [ ... ], Marcel F. Jonkman

Germ-line and somatic EPHA2 coding variants in lens aging and cataract

Thomas M. Bennett, Oussama M’Hamdi, J. Fielding Hejtmancik, Alan Shiels

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