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Sponsored AI Networking Cookbook: Practical recipes for AI-assisted network automation and development AI Networking Cookbook: Practical recipes for AI-assisted network automation and development

Author

O. Espinosa

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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. · 0 citations
Open access 2026

Familial Characterization of the DSC2 c.354+1G>T Splice-Site Variant Cardiac Disease

The findings support genetic counseling, cascade testing, and cardiovascular surveillance, however, the current clinical and segregation data do not establish definitive causality for hypertrophic cardiomyopathy or conduction disease.

JoseCedeno, Carlos Chellaram, Carolina Vega et al. · 0 citations

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