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: K139E; rs749530596

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

Deep targeted sequencing in pediatric acute lymphoblastic leukemia unveils distinct mutational patterns between genetic subtypes and novel relapse-associated genes.

Oncotarget

Lindqvist, C Mårten CM; Lundmark, Anders A; Nordlund, Jessica J; Freyhult, Eva E; Ekman, Diana D; Carlsson Almlöf, Jonas J; Raine, Amanda A; Övernäs, Elin E; Abrahamsson, Jonas J; Frost, Britt-Marie BM; Grandér, Dan D; Heyman, Mats M; Palle, Josefine J; Forestier, Erik E; Lönnerholm, Gudmar G; Berglund, Eva C EC; Syvänen, Ann-Christine AC

Publication Date: 2016-09-27

Variant appearance in text: ALK: K139E

PubMed Link: 27590521

Variant Present in the following documents:

• oncotarget-07-64071-s002.xlsx, sheet 4

View BVdb publication page