Publications:

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: R34653L; rs72629786

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Role of Titin Missense Variants in Dilated Cardiomyopathy.

Journal Of The American Heart Association

Begay, Rene L RL; Graw, Sharon S; Sinagra, Gianfranco G; Merlo, Marco M; Slavov, Dobromir D; Gowan, Katherine K; Jones, Kenneth L KL; Barbati, Giulia G; Spezzacatene, Anita A; Brun, Francesca F; Di Lenarda, Andrea A; Smith, John E JE; Granzier, Henk L HL; Mestroni, Luisa L; Taylor, Matthew M; ,

Publication Date: 2015-11-13

Variant appearance in text: TTN: 103958G>T; Arg34653Leu

PubMed Link: 26567375

Variant Present in the following documents:

• Main text
• JAH3-4-e002645.pdf

View BVdb publication page