TTN c.68029A>G ;(p.T22677A)

Variant ID: 2-179443728-T-C

NM_001267550.1(TTN):c.68029A>G;(p.T22677A)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


An Integrated Clinical-Biological Approach to Identify Interindividual Variability and Atypical Phenotype-Genotype Correlations in Myopathies: Experience on A Cohort of 156 Families.

Genes
Juntas Morales, Raul R; Perrin, Aurélien A; Solé, Guilhem G; Lacourt, Delphine D; Pegeot, Henri H; Walther-Louvier, Ulrike U; Cintas, Pascal P; Cances, Claude C; Espil, Caroline C; Theze, Corinne C; Zenagui, Reda R; Yauy, Kevin K; Cosset, Elodie E; Renard, Dimitri D; Rigau, Valerie V; Maues de Paula, Andre A; Uro-Coste, Emmanuelle E; Arne-Bes, Marie-Christine MC; Martin Négrier, Marie-Laure ML; Leboucq, Nicolas N; Acket, Blandine B; Malfatti, Edoardo E; Biancalana, Valérie V; Metay, Corinne C; Richard, Pascale P; Rendu, John J; Rivier, François F; Koenig, Michel M; Cossée, Mireille M
Publication Date: 2021-07-31

Variant appearance in text: TTN: 68029A>G; Thr22677Ala
PubMed Link: 34440373
Variant Present in the following documents:
  • Main text
  • genes-12-01199.pdf
View BVdb publication page