SMAD7 c.743-5126T>G

Variant ID: 18-46453406-A-C

NM_005904.3(SMAD7):c.743-5126T>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: rs4939826
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Genetic variations in SMAD7 are associated with colorectal cancer risk in the colon cancer family registry.

Plos One
Jiang, Xuejuan X; Castelao, J Esteban JE; Vandenberg, David D; Carracedo, Angel A; Redondo, Carmen M CM; Conti, David V DV; Paredes Cotoré, Jesus P JP; Potter, John D JD; Newcomb, Polly A PA; Passarelli, Michael N MN; Jenkins, Mark A MA; Hopper, John L JL; Gallinger, Steven S; Le Marchand, Loic L; Martínez, María E ME; Ahnen, Dennis J DJ; Baron, John A JA; Lindor, Noralane M NM; Haile, Robert W RW; Gago-Dominguez, Manuela M
Publication Date: 2013

Variant appearance in text: rs4939826
PubMed Link: 23560096
Variant Present in the following documents:
  • Main text
  • pone.0060464.pdf
View BVdb publication page