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: G1848V; rs1410136655

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: rs1410136655

PubMed Link: 35257783

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

View BVdb publication page

Deregulation of JAK2 signaling underlies primary cutaneous CD8+ aggressive epidermotropic cytotoxic T-cell lymphoma.

Haematologica

Bastidas Torres, Armando N AN; Cats, Davy D; Out-Luiting, Jacoba J JJ; Fanoni, Daniele D; Mei, Hailiang H; Venegoni, Luigia L; Willemze, Rein R; Vermeer, Maarten H MH; Berti, Emilio E; Tensen, Cornelis P CP

Publication Date: 2022-03-01

Variant appearance in text: ARID1A: 5543G>T; G1848V

PubMed Link: 33792220

Variant Present in the following documents:

• 2020_274506_TORRES_SUPPL.pdf

View BVdb publication page