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

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 ph...

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Bibliografiske detaljer
Udgivet i:J Med Genet
Main Authors: Schierding, William, Horsfield, Julia A, O'Sullivan, Justin M
Format: Artigo
Sprog:Inglês
Udgivet: BMJ Publishing Group 2021
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC8327319/
https://ncbi.nlm.nih.gov/pubmed/32917770
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2020-107095
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