Exploring TTN variants as genetic insights into cardiomyopathy pathogenesis and potential emerging clues to molecular mechanisms in cardiomyopathies
Abstract The giant protein titin (TTN) is a sarcomeric protein that forms the myofibrillar backbone for the components of the contractile machinery which plays a crucial role in muscle disorders and cardiomyopathies. Diagnosing TTN pathogenic variants has important implications for patient managemen...
| Main Authors: | , , , , , , , , , |
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| 格式: | 文件 |
| 语言: | English |
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Nature Portfolio
2024-03-01
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| 丛编: | Scientific Reports |
| 主题: | |
| 在线阅读: | https://doi.org/10.1038/s41598-024-56154-7 |