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: S2422N; rs752612004

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

The Importance of Targeted Next-Generation Sequencing Usage in Cytogenetically Normal Myeloid Malignancies.

Mediterranean Journal Of Hematology And Infectious Diseases

Atli, Emine Ikbal EI; Gurkan, Hakan H; Atli, Engin E; Kirkizlar, Hakki Onur HO; Yalcintepe, Sinem S; Demir, Selma S; Demirci, Ufuk U; Eker, Damla D; Mail, Cisem C; Kalkan, Rasime R; Demir, Ahmet Muzaffer AM

Publication Date: 2021

Variant appearance in text: CREBBP: 7265G>A

PubMed Link: 33489052

Variant Present in the following documents:

• mjhid-13-1-e2021013.pdf

View BVdb publication page