APC c.502A>T ;(p.R168*)

Variant ID: 5-112111405-A-T

NM_000038.5(APC):c.502A>T;(p.R168*)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Genomic landscape, immune characteristics and prognostic mutation signature of cervical cancer in China.

Bmc Medical Genomics
Liu, Jing J; Li, Zirong Z; Lu, Ting T; Pan, Junping J; Li, Li L; Song, Yanwen Y; Hu, Dan D; Zhuo, Yanhong Y; Chen, Ying Y; Xu, Qin Q
Publication Date: 2022-11-04

Variant appearance in text: APC: Arg168Ter
PubMed Link: 36333792
Variant Present in the following documents:
  • 12920_2022_1376_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Implementing telehealth support to increase physical activity in girls and women with Rett syndrome-ActivRett: protocol for a waitlist randomised controlled trial.

Bmj Open
Downs, Jenny J; Lotan, Meir M; Elefant, Cochavit C; Leonard, Helen H; Wong, Kingsley K; Buckley, Nicholas N; Stahlhut, Michelle M
Publication Date: 2020-12-29

Variant appearance in text: APC: Arg168*
PubMed Link: 33376177
Variant Present in the following documents:
  • bmjopen-2020-042446.draft_revisions.pdf
View BVdb publication page



Consensus guidelines on managing Rett syndrome across the lifespan.

Bmj Paediatrics Open
Fu, Cary C; Armstrong, Dallas D; Marsh, Eric E; Lieberman, David D; Motil, Kathleen K; Witt, Rochelle R; Standridge, Shannon S; Nues, Paige P; Lane, Jane J; Dinkel, Tristen T; Coenraads, Monica M; von Hehn, Jana J; Jones, Mary M; Hale, Katie K; Suter, Bernhard B; Glaze, Daniel D; Neul, Jeffrey J; Percy, Alan A; Benke, Timothy T
Publication Date: 2020

Variant appearance in text: APC: R168X
PubMed Link: 32984552
Variant Present in the following documents:
  • bmjpo-2020-000717.draft_revisions.pdf
View BVdb publication page



Effects of Combined Transcranial Direct Current Stimulation with Cognitive Training in Girls with Rett Syndrome.

Brain Sciences
Fabio, Rosa Angela RA; Gangemi, Antonio A; Semino, Martina M; Vignoli, Aglaia A; Canevini, Maria Paola MP; Priori, Alberto A; Rosa, Gabriella Di GD; Caprì, Tindara T
Publication Date: 2020-05-02

Variant appearance in text: APC: R168X
PubMed Link: 32370253
Variant Present in the following documents:
  • Main text
  • brainsci-10-00276.pdf
View BVdb publication page



Transcriptomic Analysis of Mecp2 Mutant Mice Reveals Differentially Expressed Genes and Altered Mechanisms in Both Blood and Brain.

Frontiers In Psychiatry
Sanfeliu, Albert A; Hokamp, Karsten K; Gill, Michael M; Tropea, Daniela D
Publication Date: 2019

Variant appearance in text: APC: R168X
PubMed Link: 31110484
Variant Present in the following documents:
  • fpsyt-10-00278.pdf
View BVdb publication page



When Proteins Start to Make Sense: Fine-tuning Aminoglycosides for PTC Suppression Therapy.

Medchemcomm
Shalev, Moran M; Baasov, Timor T
Publication Date: 2014-08-01

Variant appearance in text: APC: R168X
PubMed Link: 25147726
Variant Present in the following documents:
  • Main text
View BVdb publication page



New trends in aminoglycosides use.

Medchemcomm
Fosso, Marina Y MY; Li, Yijia Y; Garneau-Tsodikova, Sylvie S
Publication Date: 2014-08-01

Variant appearance in text: APC: R168X
PubMed Link: 25071928
Variant Present in the following documents:
  • Main text
View BVdb publication page



Analysis of chromosomal instability in human colorectal adenomas with two mutational hits at APC.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Sieber, O M OM; Heinimann, K K; Gorman, P P; Lamlum, H H; Crabtree, M M; Simpson, C A CA; Davies, D D; Neale, K K; Hodgson, S V SV; Roylance, R R RR; Phillips, R K S RK; Bodmer, W F WF; Tomlinson, I P M IP
Publication Date: 2002-12-24

Variant appearance in text: APC: R168X
PubMed Link: 12486240
Variant Present in the following documents:
  • Main text
View BVdb publication page