Biallelic sequence variants in INTS1 in patients with developmental delays, cataracts, and craniofac...
Biallelic sequence variants in INTS1 in patients with developmental delays, cataracts, and craniofacial anomalies
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Publisher
England: Nature Publishing Group
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Language
English
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England: Nature Publishing Group
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Contents
The Integrator complex subunit 1 (INTS1) is a component of the integrator complex that comprises 14 subunits and associates with RPB1 to catalyze endonucleolytic cleavage of nascent snRNAs and assist RNA polymerase II in promoter-proximal pause-release on protein-coding genes. We present five patients, including two sib pairs, with biallelic sequen...
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Full title
Biallelic sequence variants in INTS1 in patients with developmental delays, cataracts, and craniofacial anomalies
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6460580
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6460580
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ISSN
1018-4813
E-ISSN
1476-5438
DOI
10.1038/s41431-018-0298-9
