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; ,
Publication Date: 2022-12-01
Variant appearance in text: APP: E693D; rs768446605
Early accumulation of intracellular fibrillar oligomers and late congophilic amyloid angiopathy in mice expressing the Osaka intra-Aβ APP mutation.
Translational Psychiatry
Kulic, L L; McAfoose, J J; Welt, T T; Tackenberg, C C; Späni, C C; Wirth, F F; Finder, V V; Konietzko, U U; Giese, M M; Eckert, A A; Noriaki, K K; Shimizu, T T; Murakami, K K; Irie, K K; Rasool, S S; Glabe, C C; Hock, C C; Nitsch, R M RM
Abnormal cognition, sleep, EEG and brain metabolism in a novel knock-in Alzheimer mouse, PLB1.
Plos One
Platt, Bettina B; Drever, Benjamin B; Koss, David D; Stoppelkamp, Sandra S; Jyoti, Amar A; Plano, Andrea A; Utan, Aneli A; Merrick, Georgina G; Ryan, Duncan D; Melis, Valeria V; Wan, Hong H; Mingarelli, Marco M; Porcu, Emanuele E; Scrocchi, Louise L; Welch, Andy A; Riedel, Gernot G