Long-Reads Sequencing Strategy to Localize Variants in TTN Repeated Domains

Long-Reads Sequencing Strategy to Localize Variants in TTN Repeated Domains

Titin protein is responsible for muscle elasticity. The TTN gene, composed of 364 exons, is subjected to extensive alternative splicing and leads to different isoforms expressed in skeletal and cardiac muscle. Variants in TTN are responsible for myopathies with a wide phenotypic spectrum and autosom...

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Main Authors: Arne-Bes, M.-C (Author), Bergougnoux, A. (Author), Cossée, M. (Author), Ferreiro, A. (Author), Guignard, T. (Author), Isapof, A. (Author), Koenig, M. (Author), Lacourt, D. (Author), Larrieux, M. (Author), Lecardonnel, B. (Author), Leturcq, F. (Author), Métay, C. (Author), Nectoux, J. (Author), Pellestor, F. (Author), Perrin, A. (Author), Puechberty, J. (Author), Quijano-Roy, S. (Author), Richard, P. (Author), Thèze, C. (Author), Van Goethem, C. (Author), Whalen, S. (Author)
Format: Article
Language:English
Published: Elsevier B.V. 2022
Online Access:View Fulltext in Publisher

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