TTN c.79683dup ;(p.R26562Tfs*12)

Variant ID: 2-179431175-G-GT

NM_001267550.1(TTN):c.79683dup;(p.R26562Tfs*12)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


A new congenital multicore titinopathy associated with fast myosin heavy chain deficiency.

Annals Of Clinical And Translational Neurology
Perrin, Aurélien A; Metay, Corinne C; Villanova, Marcello M; Carlier, Robert-Yves RY; Pegoraro, Elena E; Juntas Morales, Raul R; Stojkovic, Tanya T; Richard, Isabelle I; Richard, Pascale P; Romero, Norma B NB; Granzier, Henk H; Koenig, Michel M; Malfatti, Edoardo E; Cossée, Mireille M
Publication Date: 2020-05

Variant appearance in text: TTN: 79683dupA; Arg26562Thrfs*12
PubMed Link: 32307885
Variant Present in the following documents:
  • Main text
  • ACN3-7-846.pdf
View BVdb publication page



Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.

Jama Neurology
Savarese, Marco M; Maggi, Lorenzo L; Vihola, Anna A; Jonson, Per Harald PH; Tasca, Giorgio G; Ruggiero, Lucia L; Bello, Luca L; Magri, Francesca F; Giugliano, Teresa T; Torella, Annalaura A; Evilä, Anni A; Di Fruscio, Giuseppina G; Vanakker, Olivier O; Gibertini, Sara S; Vercelli, Liliana L; Ruggieri, Alessandra A; Antozzi, Carlo C; Luque, Helena H; Janssens, Sandra S; Pasanisi, Maria Barbara MB; Fiorillo, Chiara C; Raimondi, Monika M; Ergoli, Manuela M; Politano, Luisa L; Bruno, Claudio C; Rubegni, Anna A; Pane, Marika M; Santorelli, Filippo M FM; Minetti, Carlo C; Angelini, Corrado C; De Bleecker, Jan J; Moggio, Maurizio M; Mongini, Tiziana T; Comi, Giacomo Pietro GP; Santoro, Lucio L; Mercuri, Eugenio E; Pegoraro, Elena E; Mora, Marina M; Hackman, Peter P; Udd, Bjarne B; Nigro, Vincenzo V
Publication Date: 2018-05-01

Variant appearance in text: TTN: 79683dupA
PubMed Link: 29435569
Variant Present in the following documents:
  • Main text
View BVdb publication page