NF1 c.5046dup ;(p.N1683*)

Variant ID: 17-29653047-G-GT

NM_001042492.2(NF1):c.5046dup;(p.N1683*)

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: 5046dup; Asn1683Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Comprehensive genomic profiling of Brazilian non-small cell lung cancer patients (GBOT 0118/LACOG0418).

Thoracic Cancer
Mascarenhas, Eldsamira E; Gelatti, Ana Caroline AC; Araújo, Luiz Henrique LH; Baldotto, Clarissa C; Mathias, Clarissa C; Zukin, Mauro M; Werutsky, Gustavo G; Pacheco, Patricia P; Gomes, Rafaela R; de Castro, Gilberto G; Cordeiro de Lima, Vladmir Cláudio VC
Publication Date: 2021-03

Variant appearance in text: NF1: N1683FS*1
PubMed Link: 33314759
Variant Present in the following documents:
  • Main text
  • TCA-12-580.pdf
View BVdb publication page