Article

Tissue-Specific Regulatory and Expression Patterns of CDG-causative genes account to Phenotypic Variability

2025-10-10

Abstract excerpt

<h4>ABSTRACT</h4> Congenital disorders of glycosylation (CDGs) are rare metabolic diseases caused by impaired addition of glycans to proteins and lipids. They display wide clinical variability, but the molecular basis remains unclear. Using healthy transcriptomic data from the GTEx project (bulk: 2,833 samples across 36 tissues; single-nucleus: 209,126 nuclei from 25 samples spanning 8 tissue types and 44 cell ty...

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Literature Corpus work: 0f125450-1d0f-5f3e-a11f-e4ade2f1a817
DOI: 10.1101/2025.10.09.681373

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