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Article

Low tolerance for transcriptional variation at cohesin genes is accompanied by functional links to disease-relevant pathways.

Journal of medical genetics - 1 Aug 2021

Schierding William, Horsfield Julia A, O'Sullivan Justin M

Abstract excerpt

BACKGROUND: The cohesin complex plays an essential role in genome organisation and cell division. A full complement of the cohesin complex and its regulators is important for normal development, since heterozygous mutations in genes encoding these components can be sufficient to produce a disease phenotype. The implication that genes encoding the cohesin subunits or cohesin regulators must be tightly controlled...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 32917770
DOI: 10.1136/jmedgenet-2020-107095
PMCID: PMC8327319

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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