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: ATP2B3: V369M; rs782608891
Molecular and functional profiling identifies therapeutically targetable vulnerabilities in plasmablastic lymphoma.
Nature Communications
Frontzek, Fabian F; Staiger, Annette M AM; Zapukhlyak, Myroslav M; Xu, Wendan W; Bonzheim, Irina I; Borgmann, Vanessa V; Sander, Philip P; Baptista, Maria Joao MJ; Heming, Jan-Niklas JN; Berning, Philipp P; Wullenkord, Ramona R; Erdmann, Tabea T; Lutz, Mathias M; Veratti, Pia P; Ehrenfeld, Sophia S; Wienand, Kirsty K; Horn, Heike H; Goodlad, John R JR; Wilson, Matthew R MR; Anagnostopoulos, Ioannis I; Lamping, Mario M; Gonzalez-Barca, Eva E; Climent, Fina F; Salar, Antonio A; Castellvi, Josep J; Abrisqueta, Pau P; Menarguez, Javier J; Aldamiz, Teresa T; Richter, Julia J; Klapper, Wolfram W; Tzankov, Alexandar A; Dirnhofer, Stefan S; Rosenwald, Andreas A; Mate, José Luis JL; Tapia, Gustavo G; Lenz, Peter P; Miething, Cornelius C; Hartmann, Wolfgang W; Chapuy, Björn B; Fend, Falko F; Ott, German G; Navarro, José-Tomas JT; Grau, Michael M; Lenz, Georg G