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: MYH6: R809C; rs746955749
Significance of α-Myosin Heavy Chain (MYH6) Variants in Hypoplastic Left Heart Syndrome and Related Cardiovascular Diseases.
Journal Of Cardiovascular Development And Disease
Anfinson, Melissa M; Fitts, Robert H RH; Lough, John W JW; James, Jeanne M JM; Simpson, Pippa M PM; Handler, Stephanie S SS; Mitchell, Michael E ME; Tomita-Mitchell, Aoy A
Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing.
Journal Of Medical Genetics
Lopes, Luis R LR; Zekavati, Anna A; Syrris, Petros P; Hubank, Mike M; Giambartolomei, Claudia C; Dalageorgou, Chrysoula C; Jenkins, Sharon S; McKenna, William W; , ; Plagnol, Vincent V; Elliott, Perry M PM