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: TTN: E34041K; rs377600383
Molecular autopsy and family screening in a young case of sudden cardiac death reveals an unusually severe case of FHL1 related hypertrophic cardiomyopathy.
Molecular Genetics & Genomic Medicine
Gaertner-Rommel, Anna A; Tiesmeier, Jens J; Jakob, Thomas T; Strickmann, Bernd B; Veit, Gunter G; Bachmann-Mennenga, Bernd B; Paluszkiewicz, Lech L; Klingel, Karin K; Schulz, Uwe U; Laser, Kai T KT; Karger, Bernd B; Pfeiffer, Heidi H; Milting, Hendrik H
Publication Date: 2019-08
Variant appearance in text: TTN: 102121G>A; Glu34041Lys; rs377600383