Publications:

UV-exposure, endogenous DNA damage, and DNA replication errors shape the spectra of genome changes in human skin.

Plos Genetics

Saini, Natalie N; Giacobone, Camille K CK; Klimczak, Leszek J LJ; Papas, Brian N BN; Burkholder, Adam B AB; Li, Jian-Liang JL; Fargo, David C DC; Bai, Re R; Gerrish, Kevin K; Innes, Cynthia L CL; Schurman, Shepherd H SH; Gordenin, Dmitry A DA

Publication Date: 2021-01

Variant appearance in text: PKD1: W683R

PubMed Link: 33444353

Variant Present in the following documents:

• pgen.1009302.s014.xlsx, sheet 1

View BVdb publication page

TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.

Nature Communications

Gomes, Carolina Cavalieri CC; Gayden, Tenzin T; Bajic, Andrea A; Harraz, Osama F OF; Pratt, Jonathan J; Nikbakht, Hamid H; Bareke, Eric E; Diniz, Marina Gonçalves MG; Castro, Wagner Henriques WH; St-Onge, Pascal P; Sinnett, Daniel D; Han, HyeRim H; Rivera, Barbara B; Mikael, Leonie G LG; De Jay, Nicolas N; Kleinman, Claudia L CL; Valera, Elvis Terci ET; Bassenden, Angelia V AV; Berghuis, Albert M AM; Majewski, Jacek J; Nelson, Mark T MT; Gomez, Ricardo Santiago RS; Jabado, Nada N

Publication Date: 2018-11-01

Variant appearance in text: PKD1: W683R

PubMed Link: 30385747

Variant Present in the following documents:

• 41467_2018_6690_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page