Article

A comprehensive framework for the interpretation of TTN missense variants

2025-09-03

Abstract excerpt

<title>Abstract</title> <p>Background: Missense variants in <italic>TTN</italic> pose a major challenge in genetic diagnostics due to their high frequency in the general population, the large size of the gene, and the complex multidomain architecture of the titin protein. While the contribution of truncating variants (TTNtv) to titinopathies is well established, the role of rare <italic>TTN</italic> missense vari...

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Literature Corpus work: 13a8ec61-3b4b-57ad-aa5c-d50a91da3862
DOI: 10.21203/rs.3.rs-7152341/v1

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