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: CREBBP: P875S; rs1242554712

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology

Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M

Publication Date: 2020-01-07

Variant appearance in text: CREBBP: 2623C>T

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM3_ESM.xlsx, sheet 1

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Mutational profile of primary breast diffuse large B-cell lymphoma.

Oncotarget

Franco, Fernando F; González-Rincón, Julia J; Lavernia, Javier J; García, Juan F JF; Martín, Paloma P; Bellas, Carmen C; Piris, Miguel A MA; Pedrosa, Lucia L; Miramón, José J; Gómez-Codina, José J; Rodríguez-Abreu, Delvys D; Machado, Isidro I; Illueca, Carmen C; Alfaro, Jesús J; Provencio, Mariano M; Sánchez-Beato, Margarita M

Publication Date: 2017-11-28

Variant appearance in text: CREBBP: P875S

PubMed Link: 29262531

Variant Present in the following documents:

• Main text
• oncotarget-08-102888-s001.xlsx, sheet 1
• oncotarget-08-102888.pdf

View BVdb publication page