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: NOTCH1: E360K; rs567942055

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Utilizing Tumor and Plasma Liquid Biopsy in Treatment Decision Making for an Estrogen Receptor-Positive Advanced Breast Cancer Patient.

Cureus

Xu, Bing B; Krie, Amy A; De, Pradip P; Williams, Casey C; Elsey, Rachel R; Klein, Jessica J; Leyland-Jones, Brian B

Publication Date: 2017-06-29

Variant appearance in text: NOTCH1: Glu360Lys

PubMed Link: 28856074

Variant Present in the following documents:

• Main text
• cureus-0009-00000001408.pdf

View BVdb publication page