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: GRIN2A: I755V; rs763490638
Structural basis of subunit selectivity for competitive NMDA receptor antagonists with preference for GluN2A over GluN2B subunits.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Lind, Genevieve E GE; Mou, Tung-Chung TC; Tamborini, Lucia L; Pomper, Martin G MG; De Micheli, Carlo C; Conti, Paola P; Pinto, Andrea A; Hansen, Kasper B KB