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Article

STAG2: Computational Analysis of Missense Variants Involved in Disease.

International journal of molecular sciences - 20 Jan 2024

Ros-Pardo David, Gómez-Puertas Paulino, Marcos-Alcalde Íñigo

Abstract excerpt

The human STAG2 protein is an essential component of the cohesin complex involved in cellular processes of gene expression, DNA repair, and genomic integrity. Somatic mutations in the STAG2 sequence have been associated with various types of cancer, while congenital variants have been linked to developmental disorders such as Mullegama-Klein-Martinez syndrome, X-linked holoprosencephaly-13, and Cornelia de Lange...

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Identifiers

PMID: 38279279
DOI: 10.3390/ijms25021280
PMCID: PMC10816197

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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