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: ALK: S260R; rs1233157268

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

Novel pathogenic alterations in pediatric and adult desmoid-type fibromatosis - A systematic analysis of 204 cases.

Scientific Reports

Trautmann, Marcel M; Rehkämper, Jan J; Gevensleben, Heidrun H; Becker, Jessica J; Wardelmann, Eva E; Hartmann, Wolfgang W; Grünewald, Inga I; Huss, Sebastian S

Publication Date: 2020-02-25

Variant appearance in text: ALK: S260R

PubMed Link: 32099073

Variant Present in the following documents:

• 41598_2020_60237_MOESM1_ESM.pdf

View BVdb publication page