Biallelic sequence variants in INTS1 in patients with developmental delays, cataracts, and craniofacial anomalies
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://www.nature.com/articles/s41431-018-0298-9.pdf
Reference27 articles.
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2. Rienzo M, Casamassimi A. Integrator complex and transcription regulation: recent findings and pathophysiology. Biochim Biophys Acta. 2016;1859:1269–80.
3. Chen J, Waltenspiel B, Warren WD, et al. Functional analysis of the integrator subunit 12 identifies a microdomain that mediates activation of the Drosophila integrator complex. J Biol Chem. 2013;288:4867–77.
4. Chen J, Wagner EJ. snRNA 3’ end formation: the dawn of the Integrator complex. Biochem Soc Trans. 2010;38:1082–7.
5. Hata T, Nakayama M. Targeted disruption of the murine large nuclear KIAA1440/Ints1 protein causes growth arrest in early blastocyst stage embryos and eventual apoptotic cell death. Biochim Biophys Acta. 2007;1773:1039–51.
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3. Bi-allelic variants in INTS11 are associated with a complex neurological disorder;The American Journal of Human Genetics;2023-05
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