DMD c.3638_3650del ;(p.K1213Ifs*5)

Variant ID: X-32466709-AAGGAGTTTCACTT-A

NM_004006.2(DMD):c.3638_3650del;(p.K1213Ifs*5)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Increased tissue stiffness triggers contractile dysfunction and telomere shortening in dystrophic cardiomyocytes.

Stem Cell Reports
Chang, Alex C Y ACY; Pardon, Gaspard G; Chang, Andrew C H ACH; Wu, Haodi H; Ong, Sang-Ging SG; Eguchi, Asuka A; Ancel, Sara S; Holbrook, Colin C; Ramunas, John J; Ribeiro, Alexandre J S AJS; LaGory, Edward L EL; Wang, Honghui H; Koleckar, Kassie K; Giaccia, Amato A; Mack, David L DL; Childers, Martin K MK; Denning, Chris C; Day, John W JW; Wu, Joseph C JC; Pruitt, Beth L BL; Blau, Helen M HM
Publication Date: 2021-09-14

Variant appearance in text: DMD: 3638_3650del
PubMed Link: 34019816
Variant Present in the following documents:
  • mmc1.pdf
  • mmc9.pdf
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: DMD: 3638_3650del
PubMed Link: 30150400
Variant Present in the following documents:
  • Main text
  • pnas.201714538.pdf
View BVdb publication page