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: RYR1: T2478N; rs141298868
Dominant or recessive mutations in the RYR1 gene causing central core myopathy in Brazilian patients.
Acta Myologica : Myopathies And Cardiomyopathies : Official Journal Of The Mediterranean Society Of Myology
Galleni Leão, Leonardo L; Santos Souza, Lucas L; Nogueira, Letícia L; Pavanello, Rita de Cássia Mingroni RCM; Gurgel-Giannetti, Juliana J; Reed, Umbertina C UC; Oliveira, Acary S B ASB; Cuperman, Thais T; Cotta, Ana A; FPaim, Julia J; Zatz, Mayana M; Vainzof, Mariz M
Publication Date: 2020-12
Variant appearance in text: RYR1: 7433C>A; Thr2478Asn; rs141298868
NCI-60 whole exome sequencing and pharmacological CellMiner analyses.
Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y
Publication Date: 2014
Variant appearance in text: RYR1: T2478N; rs141298868