TTN c.1123A>G ;(p.R375G)

Variant ID: 2-179659771-T-C

NM_001267550.1(TTN):c.1123A>G;(p.R375G)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


A genomic case study of desmoplastic small round cell tumor: comprehensive analysis reveals insights into potential therapeutic targets and development of a monitoring tool for a rare and aggressive disease.

Human Genomics
Ferreira, Elisa Napolitano EN; Barros, Bruna Durães Figueiredo BD; de Souza, Jorge Estefano JE; Almeida, Renan Valieris RV; Torrezan, Giovana Tardin GT; Garcia, Sheila S; Krepischi, Ana Cristina Victorino AC; Mello, Celso Abdon Lopes de CA; Cunha, Isabela Werneck da IW; Pinto, Clóvis Antonio Lopes CA; Soares, Fernando Augusto FA; Dias-Neto, Emmanuel E; Lopes, Ademar A; de Souza, Sandro José SJ; Carraro, Dirce Maria DM
Publication Date: 2016-11-18

Variant appearance in text: TTN: 1123A>G
PubMed Link: 27863505
Variant Present in the following documents:
  • 40246_2016_Article_92.pdf
View BVdb publication page



Glutamate signaling in benign and malignant disorders: current status, future perspectives, and therapeutic implications.

International Journal Of Biological Sciences
Willard, Stacey S SS; Koochekpour, Shahriar S
Publication Date: 2013

Variant appearance in text: TMD: R375G
PubMed Link: 23983606
Variant Present in the following documents:
  • Main text
  • ijbsv09p0728.pdf
View BVdb publication page