NF1 c.60+1602A>G

Variant ID: 17-29423989-A-G

NM_001042492.2(NF1):c.60+1602A>G

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs1123232
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



A quantitative assessment of the burden and distribution of Lisch nodules in adults with neurofibromatosis type 1.

Investigative Ophthalmology & Visual Science
Boley, Sean S; Sloan, Jennifer L JL; Pemov, Alexander A; Stewart, Douglas R DR
Publication Date: 2009-11

Variant appearance in text: rs1123232
PubMed Link: 19516012
Variant Present in the following documents:
  • Main text
View BVdb publication page