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: FLT4: Q1330E; rs762359092

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

Clonal and microclonal mutational heterogeneity in high hyperdiploid acute lymphoblastic leukemia.

Oncotarget

de Smith, Adam J AJ; Ojha, Juhi J; Francis, Stephen S SS; Sanders, Erica E; Endicott, Alyson A AA; Hansen, Helen M HM; Smirnov, Ivan I; Termuhlen, Amanda M AM; Walsh, Kyle M KM; Metayer, Catherine C; Wiemels, Joseph L JL

Publication Date: 2016-11-08

Variant appearance in text: FLT4: Gln1330Glu

PubMed Link: 27683039

Variant Present in the following documents:

• oncotarget-07-72733-s003.xlsx, sheet 1

View BVdb publication page