HIGHLIGHTS
- who: Anne Gregor and colleagues from the Institute of Human Genetics, Inselspital Bern, University of Bern, Bern, Switzerland, Department of have published the paper: 440-454 General Article GENERAL Article De novo missense variants in FBXO11 alter its protein Maria Palomares-Bralo16 Fernando Santos-Simarro16 Sixto Garcia-Minaur16 Marta Pacio-Miguez16 Bernt Popp9 Georgia Vasileiou1 Moritz Hebebrand1 Marta Bertoli26 Sabine Hoffjan27 Ruth Falb14 Marwan Shinawi28, in the Journal: (JOURNAL)
- what: The authors characterize the functional effects of several published and the majority of the novel FBXO11 missense variants. Seventeen missense variants observed in affected individuals . . .
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