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Discerning the Ambiguous Role of Missense TTN Variants in Inherited Arrhythmogenic Syndromes

8 Feb 2022

Abstract excerpt

The titin gene (TTN) is associated with several diseases, including inherited arrhythmias. Most of these diagnoses are attributed to rare TTN variants encoding truncated forms, but missense variants represent a diagnostic challenge for clinical genetics. The proper interpretation of genetic data is critical for translation into the clinical setting. Notably, many TTN variants were classified before 2015, when the...

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PMID: 35207729
DOI: 10.3390/jpm12020241

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