NF1 c.480-566C>A

Variant ID: 17-29496343-C-A

NM_001042492.2(NF1):c.480-566C>A

This variant was identified in 4 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: rs2953013
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Epigenetic Regulation in Knee Osteoarthritis.

Frontiers In Genetics
Cai, Zhengyu Z; Long, Teng T; Zhao, Yaochao Y; Lin, Ruixin R; Wang, You Y
Publication Date: 2022

Variant appearance in text: rs2953013
PubMed Link: 35873487
Variant Present in the following documents:
  • Main text
  • fgene-13-942982.pdf
View BVdb publication page



Genetics of osteoarthritis.

Osteoarthritis And Cartilage
Aubourg, G G; Rice, S J SJ; Bruce-Wootton, P P; Loughlin, J J
Publication Date: 2022-05

Variant appearance in text: rs2953013
PubMed Link: 33722698
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of new therapeutic targets for osteoarthritis through genome-wide analyses of UK Biobank data.

Nature Genetics
Tachmazidou, Ioanna I; Hatzikotoulas, Konstantinos K; Southam, Lorraine L; Esparza-Gordillo, Jorge J; Haberland, Valeriia V; Zheng, Jie J; Johnson, Toby T; Koprulu, Mine M; Zengini, Eleni E; Steinberg, Julia J; Wilkinson, Jeremy M JM; Bhatnagar, Sahir S; Hoffman, Joshua D JD; Buchan, Natalie N; Süveges, Dániel D; , ; Yerges-Armstrong, Laura L; Smith, George Davey GD; Gaunt, Tom R TR; Scott, Robert A RA; McCarthy, Linda C LC; Zeggini, Eleftheria E
Publication Date: 2019-02

Variant appearance in text: rs2953013
PubMed Link: 30664745
Variant Present in the following documents:
  • Main text
  • NIHMS80782-supplement-Supplementary_Information.pdf
View BVdb publication page