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: APC: A501T; rs767897109

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Validation and clinical application of a targeted next-generation sequencing gene panel for solid and hematologic malignancies.

Peerj

Prieto-Potin, Iván I; Carvajal, Nerea N; Plaza-Sánchez, Jenifer J; Manso, Rebeca R; Aúz-Alexandre, Carmen Laura CL; Chamizo, Cristina C; Zazo, Sandra S; López-Sánchez, Almudena A; Rodríguez-Pinilla, Socorro María SM; Camacho, Laura L; Longarón, Raquel R; Bellosillo, Beatriz B; Somoza, Rosa R; Hernández-Losa, Javier J; Fernández-Soria, Víctor Manuel VM; Ramos-Ruiz, Ricardo R; Cristóbal, Ion I; García-Foncillas, Jesús J; Rojo, Federico F

Publication Date: 2020

Variant appearance in text: APC: 1501G>A

PubMed Link: 33083132

Variant Present in the following documents:

• peerj-08-10069-s009.xlsx, sheet 1

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Treatment-associated TP53 DNA-binding domain missense mutations in the pathogenesis of secondary gliosarcoma.

Oncotarget

Pain, Margaret M; Wang, Huaien H; Lee, Eunjee E; Strahl, Maya M; Hamou, Wissam W; Sebra, Robert R; Zhu, Jun J; Yong, Raymund L RL

Publication Date: 2018-01-05

Variant appearance in text: APC: A501T

PubMed Link: 29416795

Variant Present in the following documents:

• Main text
• oncotarget-09-2603.pdf

View BVdb publication page