NF1 c.2988dup ;(p.R997Qfs*24)

Variant ID: 17-29556989-T-TC

NM_001042492.2(NF1):c.2988dup;(p.R997Qfs*24)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Genetic and epigenetic characterization of posterior pituitary tumors.

Acta Neuropathologica
Schmid, Simone S; Solomon, David A DA; Perez, Eilis E; Thieme, Anne A; Kleinschmidt-DeMasters, Bette K BK; Giannini, Caterina C; Reinhardt, Annekathrin A; Asa, Sylvia L SL; Mete, Ozgur O; Stichel, Damian D; Siewert, Christin C; Dittmayer, Carsten C; Hasselblatt, Martin M; Paulus, Werner W; Nagel, Christoph C; Harter, Patrick N PN; Schittenhelm, Jens J; Honegger, Jürgen J; Rushing, Elisabeth E; Coras, Roland R; Pfister, Stefan M SM; Buslei, Rolf R; Koch, Arend A; Perry, Arie A; Jones, David T W DTW; von Deimling, Andreas A; Capper, David D; Lopes, M Beatriz MB
Publication Date: 2021-12

Variant appearance in text: NF1: R997fs
PubMed Link: 34661724
Variant Present in the following documents:
  • Main text
  • 401_2021_Article_2377.pdf
View BVdb publication page



Machine Learning Detects Pan-cancer Ras Pathway Activation in The Cancer Genome Atlas.

Cell Reports
Way, Gregory P GP; Sanchez-Vega, Francisco F; La, Konnor K; Armenia, Joshua J; Chatila, Walid K WK; Luna, Augustin A; Sander, Chris C; Cherniack, Andrew D AD; Mina, Marco M; Ciriello, Giovanni G; Schultz, Nikolaus N; , ; Sanchez, Yolanda Y; Greene, Casey S CS
Publication Date: 2018-04-03

Variant appearance in text: N/A
PubMed Link: 29617658
Variant Present in the following documents:
View BVdb publication page