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Spectrum and Clinical Interpretation of TTN Variants in Ecuadorian Patients with Heart Disease: Insights into VUS and Likely Pathogenic Variants

10 Dec 2025

Abstract excerpt

This study described TTN gene variants in Ecuadorian patients with hereditary cardiac diseases, integrating genetic ancestry to improve variant interpretation in an underrepresented population. Sixty patients with confirmed hereditary cardiac conditions were analyzed using the TruSight Cardio NGS panel (Illumina, San Diego, CA, USA), which targets 174 cardiac-associated genes. Bioinformatic analyses and...

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PMID: 41465321
DOI: 10.3390/ijms262411896

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