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J. Andrade

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Open access Sep 2026

Proteomics identify disease-associated variants in patients with rare diseases undiagnosed after genome sequencing.

It is demonstrated that serum proteomics can support rare disease diagnosis and identify disease-causing genes in patients undiagnosed after GS, although successful implementation will likely depend on tissue specificity of protein expression, detectability in blood, proteomic platform coverage, and sensitivity.

J. Carrasco-Zanini, J. Andrade, M. Pietzner et al. · 0 citations

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