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Lydier De Gracia

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#protein folding Open access Aug 2026

Computational Structural Modeling of the TTN p.(Arg3936Ter) Variant in a Panamanian Patient with Dilated Cardiomyopathy

Established genomic and population-level evidence support a Likely Pathogenic, loss-of-function classification for the TTN p.Arg3936Ter variant, which introduces a premature termination codon predicted to generate a truncated titin protein of 3,935 amino acids and is predicted to escape nonsense-mediated decay.

Lydier De Gracia, O. Espinosa, L. Sotillo et al. · Gene Clin Genom · 0 citations