CNOT3 c.-50-375T>C

Variant ID: 19-54646290-T-C

NM_014516.3(CNOT3):c.-50-375T>C

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-29

Variant appearance in text: rs36633
PubMed Link: 36991000
Variant Present in the following documents:
  • 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



Chromothripsis 18 in multiple myeloma patient with rapid extramedullary relapse.

Molecular Cytogenetics
Smetana, Jan J; Oppelt, Jan J; Štork, Martin M; Pour, Luděk L; Kuglík, Petr P
Publication Date: 2018

Variant appearance in text: rs36633
PubMed Link: 29375670
Variant Present in the following documents:
  • 13039_2018_357_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



A novel PRPF31 mutation in a large Chinese family with autosomal dominant retinitis pigmentosa and macular degeneration.

Plos One
Lu, Fang F; Huang, Lulin L; Lei, Chuntao C; Sha, Guiquan G; Zheng, Hong H; Liu, Xiaoqi X; Yang, Jiyun J; Shi, Yi Y; Lin, Ying Y; Gong, Bo B; Zhu, Xianjun X; Ma, Shi S; Qiao, Lifeng L; Lin, He H; Cheng, Jing J; Yang, Zhenglin Z
Publication Date: 2013

Variant appearance in text: rs36633
PubMed Link: 24244300
Variant Present in the following documents:
  • Main text
  • pone.0078274.pdf
View BVdb publication page



Comprehensive SNP-chip for retinitis pigmentosa-Leber congenital amaurosis diagnosis: new mutations and detection of mutational founder effects.

European Journal Of Human Genetics : Ejhg
Pomares, Esther E; Riera, Marina M; Permanyer, Jon J; Méndez, Pilar P; Castro-Navarro, Joaquín J; Andrés-Gutiérrez, Angeles A; Marfany, Gemma G; Gonzàlez-Duarte, Roser R
Publication Date: 2010-01

Variant appearance in text: rs36633
PubMed Link: 19584904
Variant Present in the following documents:
  • Main text
View BVdb publication page