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: TSC2: D1656N; rs773255614
Comparison of the functional and structural characteristics of rare TSC2 variants with clinical and genetic findings.
Human Mutation
Dufner Almeida, Luiz G LG; Nanhoe, Santoesha S; Zonta, Andrea A; Hosseinzadeh, Mitra M; Kom-Gortat, Regina R; Elfferich, Peter P; Schaaf, Gerben G; Kenter, Annegien A; Kümmel, Daniel D; Migone, Nicola N; Povey, Sue S; Ekong, Rosemary R; Nellist, Mark M
Publication Date: 2020-04
Variant appearance in text: TSC2: 4966G>A; D1656N; rs773255614