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: rs781103369

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Genetic Discovery of ATP-Sensitive K+ Channels in Cardiovascular Diseases.

Circulation. Arrhythmia And Electrophysiology

Huang, Yan Y; Hu, Dan D; Huang, Congxin C; Nichols, Colin G CG

Publication Date: 2019-05

Variant appearance in text: ICCD: 3460C>T

PubMed Link: 31030551

Variant Present in the following documents:

• Main text

View BVdb publication page