GALNT2 c.*2167C>T

Variant ID: 1-230417371-C-T

NM_004481.3(GALNT2):c.*2167C>T

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases
Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ
Publication Date: 2017-05-23

Variant appearance in text: rs1043909
PubMed Link: 28535796
Variant Present in the following documents:
  • 13023_2017_647_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page



Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family.

Jama Neurology
Zukosky, Kristen K; Meilleur, Katherine K; Traynor, Bryan J BJ; Dastgir, Jahannaz J; Medne, Livija L; Devoto, Marcella M; Collins, James J; Rooney, Jachinta J; Zou, Yaqun Y; Yang, Michele L ML; Gibbs, J Raphael JR; Meier, Markus M; Stetefeld, Joerg J; Finkel, Richard S RS; Schessl, Joachim J; Elman, Lauren L; Felice, Kevin K; Ferguson, Toby A TA; Ceyhan-Birsoy, Ozge O; Beggs, Alan H AH; Tennekoon, Gihan G; Johnson, Janel O JO; Bönnemann, Carsten G CG
Publication Date: 2015-06

Variant appearance in text: rs1043909
PubMed Link: 25938801
Variant Present in the following documents:
  • Main text
View BVdb publication page



Integrated mRNA and microRNA transcriptome sequencing characterizes sequence variants and mRNA-microRNA regulatory network in nasopharyngeal carcinoma model systems.

Febs Open Bio
Szeto, Carol Ying-Ying CY; Lin, Chi Ho CH; Choi, Siu Chung SC; Yip, Timothy T C TT; Ngan, Roger Kai-Cheong RK; Tsao, George Sai-Wah GS; Li Lung, Maria M
Publication Date: 2014

Variant appearance in text: rs1043909
PubMed Link: 24490137
Variant Present in the following documents:
  • mmc5.xlsx, sheet 2
View BVdb publication page