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: K464E

PubMed Link: 36413997

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

View BVdb publication page

What can the CF registry tell us about rare CFTR-mutations? A Belgian study.

Orphanet Journal Of Rare Diseases

De Wachter, E E; Thomas, M M; Wanyama, S S SS; Seneca, S S; Malfroot, A A

Publication Date: 2017-08-22

Variant appearance in text: CFTR: K464E

PubMed Link: 28830496

Variant Present in the following documents:

• Main text
• 13023_2017_Article_694.pdf

View BVdb publication page