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: ARID1A: A1442G; rs1234879017

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

Missense Variants Reveal Functional Insights Into the Human ARID Family of Gene Regulators.

Journal Of Molecular Biology

Deák, Gauri G; Cook, Atlanta G AG

Publication Date: 2022-05-15

Variant appearance in text: rs1234879017

PubMed Link: 35257783

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

View BVdb publication page

Molecular Characterization and Prognostication of Large Cell Neuroendocrine Carcinoma and Large Cell Carcinoma.

Frontiers In Oncology

Chen, Ying Y; Cui, Xiaoying X; Wang, Di D; Xia, Guojie G; Xing, Minyan M; Cheng, Lei L; Sheng, Liming L; Du, Xianghui X

Publication Date: 2021

Variant appearance in text: ARID1A: A1442G

PubMed Link: 35096557

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page