Publications:

Target Therapies for Systemic Mastocytosis: An Update.

Pharmaceuticals (Basel, Switzerland)

Sciumè, Mariarita M; De Magistris, Claudio C; Galli, Nicole N; Ferretti, Eleonora E; Milesi, Giulia G; De Roberto, Pasquale P; Fabris, Sonia S; Grifoni, Federica Irene FI

Publication Date: 2022-06-11

Variant appearance in text: KIT: D677N

PubMed Link: 35745657

Variant Present in the following documents:

• Main text
• pharmaceuticals-15-00738.pdf

View BVdb publication page

Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: KIT: D677N

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

Phase and context shape the function of composite oncogenic mutations.

Nature

Gorelick, Alexander N AN; Sánchez-Rivera, Francisco J FJ; Cai, Yanyan Y; Bielski, Craig M CM; Biederstedt, Evan E; Jonsson, Philip P; Richards, Allison L AL; Vasan, Neil N; Penson, Alexander V AV; Friedman, Noah D ND; Ho, Yu-Jui YJ; Baslan, Timour T; Bandlamudi, Chaitanya C; Scaltriti, Maurizio M; Schultz, Nikolaus N; Lowe, Scott W SW; Reznik, Ed E; Taylor, Barry S BS

Publication Date: 2020-06

Variant appearance in text: KIT: D677N

PubMed Link: 32461694

Variant Present in the following documents:

• NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2

View BVdb publication page

Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: KIT: D677N

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

ATP-Competitive Inhibitors Midostaurin and Avapritinib Have Distinct Resistance Profiles in Exon 17-Mutant KIT.

Cancer Research

Apsel Winger, Beth B; Cortopassi, Wilian A WA; Garrido Ruiz, Diego D; Ding, Lucky L; Jang, Kibeom K; Leyte-Vidal, Ariel A; Zhang, Na N; Esteve-Puig, Rosaura R; Jacobson, Matthew P MP; Shah, Neil P NP

Publication Date: 2019-08-15

Variant appearance in text: KIT: D677N

PubMed Link: 31270078

Variant Present in the following documents:

• Main text

View BVdb publication page