TTN c.56704A>G ;(p.T18902A)

Variant ID: 2-179463733-T-C

NM_001267550.1(TTN):c.56704A>G;(p.T18902A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27

Variant appearance in text: TTN: 56704A>G
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
View BVdb publication page



Exome-wide association study reveals novel susceptibility genes to sporadic dilated cardiomyopathy.

Plos One
Esslinger, Ulrike U; Garnier, Sophie S; Korniat, Agathe A; Proust, Carole C; Kararigas, Georgios G; Müller-Nurasyid, Martina M; Empana, Jean-Philippe JP; Morley, Michael P MP; Perret, Claire C; Stark, Klaus K; Bick, Alexander G AG; Prasad, Sanjay K SK; Kriebel, Jennifer J; Li, Jin J; Tiret, Laurence L; Strauch, Konstantin K; O'Regan, Declan P DP; Marguiles, Kenneth B KB; Seidman, Jonathan G JG; Boutouyrie, Pierre P; Lacolley, Patrick P; Jouven, Xavier X; Hengstenberg, Christian C; Komajda, Michel M; Hakonarson, Hakon H; Isnard, Richard R; Arbustini, Eloisa E; Grallert, Harald H; Cook, Stuart A SA; Seidman, Christine E CE; Regitz-Zagrosek, Vera V; Cappola, Thomas P TP; Charron, Philippe P; Cambien, François F; Villard, Eric E
Publication Date: 2017

Variant appearance in text: TTN: 56704A>G
PubMed Link: 28296976
Variant Present in the following documents:
  • Main text
  • pone.0172995.pdf
View BVdb publication page