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...
Main Authors: | , , , , , , , , , , , , , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
Elsevier B.V.
2022
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Online Access: | View Fulltext in Publisher |