NF1 c.3316dup ;(p.Y1106Lfs*11)

Variant ID: 17-29559718-A-AT

NM_001042492.2(NF1):c.3316dup;(p.Y1106Lfs*11)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Integrated multi-omic analysis of low-grade ovarian serous carcinoma collected from short and long-term survivors.

Journal Of Translational Medicine
Wong, Kwong-Kwok KK; Bateman, Nicholas W NW; Ng, Chun Wai CW; Tsang, Yvonne T M YTM; Sun, Charlotte S CS; Celestino, Joseph J; Nguyen, Tri V TV; Malpica, Anais A; Hillman, R Tyler RT; Zhang, Jianhua J; Futreal, P Andrew PA; Rojas, Christine C; Conrads, Kelly A KA; Hood, Brian L BL; Dalgard, Clifton L CL; Wilkerson, Matthew D MD; Phippen, Neil T NT; Conrads, Thomas P TP; Maxwell, George L GL; Sood, Anil K AK; Gershenson, David M DM
Publication Date: 2022-12-17

Variant appearance in text: NF1: Tyr1106fs
PubMed Link: 36528667
Variant Present in the following documents:
  • 12967_2022_3820_MOESM2_ESM.xlsx, sheet 4
View BVdb publication page



Targeted exon skipping of NF1 exon 17 as a therapeutic for neurofibromatosis type I.

Molecular Therapy. Nucleic Acids
Leier, André A; Moore, Marc M; Liu, Hui H; Daniel, Michael M; Hyde, Alexis M AM; Messiaen, Ludwine L; Korf, Bruce R BR; Selvakumaran, Jamuna J; Ciszewski, Lukasz L; Lambert, Laura L; Foote, Jeremy J; Wallace, Margaret R MR; Kesterson, Robert A RA; Dickson, George G; Popplewell, Linda L; Wallis, Deeann D
Publication Date: 2022-06-14

Variant appearance in text: N/A
PubMed Link: 35433111
Variant Present in the following documents:
View BVdb publication page