NF1 c.1095_1096del ;(p.G367Qfs*11)

Variant ID: 17-29528087-CAA-C

NM_001042492.2(NF1):c.1095_1096del;(p.G367Qfs*11)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: NF1: 1095_1096del; Gly367fs
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Dual mTORC1/2 inhibition induces anti-proliferative effect in NF1-associated plexiform neurofibroma and malignant peripheral nerve sheath tumor cells.

Oncotarget
Varin, Jennifer J; Poulain, Laury L; Hivelin, Mikael M; Nusbaum, Patrick P; Hubas, Arnaud A; Laurendeau, Ingrid I; Lantieri, Laurent L; Wolkenstein, Pierre P; Vidaud, Michel M; Pasmant, Eric E; Chapuis, Nicolas N; Parfait, BĂ©atrice B
Publication Date: 2016-06-14

Variant appearance in text: NF1: 1095_1096delAA
PubMed Link: 26840085
Variant Present in the following documents:
  • Main text
View BVdb publication page