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Article

Systems-Level Integration of Multi-Omics Identifies Genetic Modifiers of TANGO2 Deficiency Disorder.

Biomolecules - 16 Dec 2025

Airoldi Manuel, Bondi Heather, Remori Veronica, Carestiato Silvia, Ferrero Giovanni Battista, Brusco Alfredo, Fasano Mauro

Abstract excerpt

TANGO2 deficiency disorder is a rare autosomal recessive disease (~100 cases reported worldwide). Despite being caused by loss-of-function variants in the TANGO2 gene, patients exhibit marked phenotypic variability, including intrafamilial differences among individuals carrying identical variants. To uncover potential modifier mechanisms influencing disease severity, we developed an integrative Systems biology...

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Source

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Identifiers

PMID: 41463395
DOI: 10.3390/biom15121742
PMCID: PMC12730736

Genes

TANGO2
APOB
EP300
LDHA
NTN1
VLDLR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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