Article

Conserved cysteines in titin sustain the mechanical function of cardiomyocytes

2020-09-06

Abstract excerpt

The protein titin determines cardiomyocyte contraction and truncating variants in the titin gene ( TTN ) are the most common cause of dilated cardiomyopathy (DCM). Different to truncations, missense variants in TTN are currently classified as variants of uncertain significance due to their high frequency in the population and the absence of functional annotation. Here, we report the regulatory role of conserved,...

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Literature Corpus work: 77f7d5bf-6ee2-51fd-9146-9e290f8ba2c9
DOI: 10.1101/2020.09.05.282913

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