Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Permanent neonatal diabetes in INS(C94Y) transgenic pigs.
Diabetes
Renner, Simone S; Braun-Reichhart, Christina C; Blutke, Andreas A; Herbach, Nadja N; Emrich, Daniela D; Streckel, Elisabeth E; Wünsch, Annegret A; Kessler, Barbara B; Kurome, Mayuko M; Bähr, Andrea A; Klymiuk, Nikolai N; Krebs, Stefan S; Puk, Oliver O; Nagashima, Hiroshi H; Graw, Jochen J; Blum, Helmut H; Wanke, Ruediger R; Wolf, Eckhard E