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: V21375M; rs371670651

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

Rare coding TTN variants are associated with electrocardiographic QT interval in the general population.

Scientific Reports

Kapoor, Ashish A; Bakshy, Kiranmayee K; Xu, Linda L; Nandakumar, Priyanka P; Lee, Dongwon D; Boerwinkle, Eric E; Grove, Megan L ML; Arking, Dan E DE; Chakravarti, Aravinda A

Publication Date: 2016-06-20

Variant appearance in text: TTN: V21375M

PubMed Link: 27321809

Variant Present in the following documents:

• Main text
• srep28356-s1.pdf
• srep28356.pdf

View BVdb publication page