TTN c.67745del ;(p.V22582Afs*10)

Variant ID: 2-179444012-GA-G

NM_001267550.1(TTN):c.67745del;(p.V22582Afs*10)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Genetic Cardiomyopathies: The Lesson Learned from hiPSCs.

Journal Of Clinical Medicine
My, Ilaria I; Di Pasquale, Elisa E
Publication Date: 2021-03-09

Variant appearance in text: TTN: 67745delT
PubMed Link: 33803477
Variant Present in the following documents:
  • Main text
  • jcm-10-01149.pdf
View BVdb publication page



Modelling sarcomeric cardiomyopathies with human cardiomyocytes derived from induced pluripotent stem cells.

The Journal Of Physiology
Sewanan, Lorenzo R LR; Campbell, Stuart G SG
Publication Date: 2020-07

Variant appearance in text: TTN: 67745delT
PubMed Link: 30624779
Variant Present in the following documents:
  • Main text
View BVdb publication page



Telomere shortening is a hallmark of genetic cardiomyopathies.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Chang, Alex C Y ACY; Chang, Andrew C H ACH; Kirillova, Anna A; Sasagawa, Koki K; Su, Willis W; Weber, Gerhard G; Lin, Jue J; Termglinchan, Vittavat V; Karakikes, Ioannis I; Seeger, Timon T; Dainis, Alexandra M AM; Hinson, John T JT; Seidman, Jonathan J; Seidman, Christine E CE; Day, John W JW; Ashley, Euan E; Wu, Joseph C JC; Blau, Helen M HM
Publication Date: 2018-09-11

Variant appearance in text: TTN: 67745delT
PubMed Link: 30150400
Variant Present in the following documents:
  • Main text
  • pnas.201714538.pdf
View BVdb publication page