NF1 c.1448A>G ;(p.D483G)

Variant ID: 17-29541524-A-G

NM_001042492.2(NF1):c.1448A>G;(p.D483G)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Genetic diagnosis of neurofibromatosis type 1: targeted next- generation sequencing with Multiple Ligation-Dependent Probe Amplification analysis.

Journal Of Biomedical Science
Wu-Chou, Yah-Huei YH; Hung, Tzu-Chao TC; Lin, Yin-Ting YT; Cheng, Hsing-Wen HW; Lin, Ju-Li JL; Lin, Chih-Hung CH; Yu, Chung-Chih CC; Chen, Kuo-Ting KT; Yeh, Tu-Hsueh TH; Chen, Yu-Ray YR
Publication Date: 2018-10-05

Variant appearance in text: NF1: 1448A>G
PubMed Link: 30290804
Variant Present in the following documents:
  • Main text
  • 12929_2018_Article_474.pdf
View BVdb publication page



Systematic drug screening reveals specific vulnerabilities and co-resistance patterns in endocrine-resistant breast cancer.

Bmc Cancer
Kangaspeska, Sara S; Hultsch, Susanne S; Jaiswal, Alok A; Edgren, Henrik H; Mpindi, John-Patrick JP; Eldfors, Samuli S; Brück, Oscar O; Aittokallio, Tero T; Kallioniemi, Olli O
Publication Date: 2016-07-04

Variant appearance in text: NF1: D483G
PubMed Link: 27378269
Variant Present in the following documents:
  • 12885_2016_2452_MOESM9_ESM.xlsx, sheet 1
View BVdb publication page