CP c.121G>T ;(p.E41*)

Variant ID: 3-148939459-C-A

NM_000096.3(CP):c.121G>T;(p.E41*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Potentially avoidable causes of hospitalisation in people with dementia: contemporaneous associations by stage of dementia in a South London clinical cohort.

Bmj Open
Gungabissoon, Usha U; Perera, Gayan G; Galwey, Nicholas W NW; Stewart, Robert R
Publication Date: 2022-04-05

Variant appearance in text: CP: E41X
PubMed Link: 35383067
Variant Present in the following documents:
  • bmjopen-2021-055447.draft_revisions.pdf
View BVdb publication page



Epigenetic priming in chronic liver disease impacts the transcriptional and genetic landscapes of hepatocellular carcinoma.

Molecular Oncology
Gallon, John J; Coto-Llerena, Mairene M; Ercan, Caner C; Bianco, Gaia G; Paradiso, Viola V; Nuciforo, Sandro S; Taha-Melitz, Stephanie S; Meier, Marie-Anne MA; Boldanova, Tujana T; Pérez-Del-Pulgar, Sofía S; Rodríguez-Tajes, Sergio S; von Flüe, Markus M; Soysal, Savas D SD; Kollmar, Otto O; Llovet, Josep M JM; Villanueva, Augusto A; Terracciano, Luigi M LM; Heim, Markus H MH; Ng, Charlotte K Y CKY; Piscuoglio, Salvatore S
Publication Date: 2022-02

Variant appearance in text: CP: 121G>T; Glu41*
PubMed Link: 34863035
Variant Present in the following documents:
  • MOL2-16-665-s001.xlsx, sheet 5
View BVdb publication page



SCP2 mutations and neurodegeneration with brain iron accumulation.

Neurology
Horvath, Rita R; Lewis-Smith, David D; Douroudis, Konstantinos K; Duff, Jennifer J; Keogh, Michael M; Pyle, Angela A; Fletcher, Nicholas N; Chinnery, Patrick F PF
Publication Date: 2015-11-24

Variant appearance in text: CP: 121G>T; Glu41*
PubMed Link: 26497993
Variant Present in the following documents:
  • Main text
View BVdb publication page