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: ABCB4: C717S; rs754668992

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

Targeted Next-Generation Sequencing in Diagnostic Approach to Monogenic Cholestatic Liver Disorders-Single-Center Experience.

Frontiers In Pediatrics

Lipiński, Patryk P; Ciara, Elżbieta E; Jurkiewicz, Dorota D; Pollak, Agnieszka A; Wypchło, Maria M; Płoski, Rafał R; Cielecka-Kuszyk, Joanna J; Socha, Piotr P; Pawłowska, Joanna J; Jankowska, Irena I

Publication Date: 2020

Variant appearance in text: ABCB4: 2149T>A

PubMed Link: 32793533

Variant Present in the following documents:

• Main text
• fped-08-00414.pdf

View BVdb publication page