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: Q1286E; rs370998642

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

Telomere alterations in neurofibromatosis type 1-associated solid tumors.

Acta Neuropathologica Communications

Rodriguez, Fausto J FJ; Graham, Mindy K MK; Brosnan-Cashman, Jacqueline A JA; Barber, John R JR; Davis, Christine C; Vizcaino, M Adelita MA; Palsgrove, Doreen N DN; Giannini, Caterina C; Pekmezci, Melike M; Dahiya, Sonika S; Gokden, Murat M; Noë, Michael M; Wood, Laura D LD; Pratilas, Christine A CA; Morris, Carol D CD; Belzberg, Allan A; Blakeley, Jaishri J; Heaphy, Christopher M CM

Publication Date: 2019-08-28

Variant appearance in text: FLT4: Q1286E

PubMed Link: 31462295

Variant Present in the following documents:

• 40478_2019_792_MOESM1_ESM.pdf

View BVdb publication page