Articles with "missense ttn" as a keyword



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

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Published in 2022 at "Journal of Personalized Medicine"

DOI: 10.3390/jpm12020241

Abstract: 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.… read more here.

Keywords: missense ttn; role; ttn variants; ttn ... See more keywords