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: CFTR: K1461E; rs1191325047

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

Abundant off-target edits from site-directed RNA editing can be reduced by nuclear localization of the editing enzyme.

Rna Biology

Vallecillo-Viejo, Isabel C IC; Liscovitch-Brauer, Noa N; Montiel-Gonzalez, Maria Fernanda MF; Eisenberg, Eli E; Rosenthal, Joshua J C JJC

Publication Date: 2018-01-02

Variant appearance in text: CFTR: K1461E

PubMed Link: 29099293

Variant Present in the following documents:

• Main text

View BVdb publication page