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

Perrin, A; Van Goethem, C; Theze, C; Puechberty, J; Guignard, T; Lecardonnel, B; Lacourt, D; Metay, C; Isapof, A; Whalen, S; Ferreiro, A; Arne-Bes, MC; Quijano-Roy, S; Nectoux, J; Leturcq, F; Richard, P; Larrieux, M; Bergougnoux, A; Pellestor, F; Koenig, M; Cossee, M

Cossee, M (通讯作者)，CHU Montpellier, Lab Genet Mol, PhymedExp INSERM U1046, CNRS UMR9214 UM IURC,Inst Univ Rech Clin, 641 Ave Doyen Gaston Giraud, F-34093 Montpellier 5, France.

JOURNAL OF MOLECULAR DIAGNOSTICS, 2022; 24 (7): 719

Abstract

Titin protein is responsible for muscle elasticity. The TTN gene, composed of 364 exons, is subjected to extensive alternative splicing and leads to d......

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