RB1 c.43_45delinsTAA ;(p.A15*)

Variant ID: 13-48878091-GCT-TAA

NM_000321.2(RB1):c.43_45delinsTAA;(p.A15*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Knowledge-guided analysis of "omics" data using the KnowEnG cloud platform.

Plos Biology
Blatti, Charles C; Emad, Amin A; Berry, Matthew J MJ; Gatzke, Lisa L; Epstein, Milt M; Lanier, Daniel D; Rizal, Pramod P; Ge, Jing J; Liao, Xiaoxia X; Sobh, Omar O; Lambert, Mike M; Post, Corey S CS; Xiao, Jinfeng J; Groves, Peter P; Epstein, Aidan T AT; Chen, Xi X; Srinivasan, Subhashini S; Lehnert, Erik E; Kalari, Krishna R KR; Wang, Liewei L; Weinshilboum, Richard M RM; Song, Jun S JS; Jongeneel, C Victor CV; Han, Jiawei J; Ravaioli, Umberto U; Sobh, Nahil N; Bushell, Colleen B CB; Sinha, Saurabh S
Publication Date: 2020-01

Variant appearance in text: RB1: A15X
PubMed Link: 31971940
Variant Present in the following documents:
  • pbio.3000583.s006.xlsx, sheet 13
View BVdb publication page



Increased incidence and disparity of diagnosis of retinoblastoma patients in Guatemala.

Cancer Letters
Dean, Michael M; Bendfeldt, Giovana G; Lou, Hong H; Giron, Veronica V; Garrido, Claudia C; Valverde, Patricia P; Barnoya, Margarita M; Castellanos, Mauricio M; Jiménez-Morales, Silvia S; Luna-Fineman, Sandra S
Publication Date: 2014-08-28

Variant appearance in text: RB1: A15X
PubMed Link: 24814393
Variant Present in the following documents:
  • Main text
View BVdb publication page