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Biallelic sequence variants in INTS1 in patients with developmental delays, cataracts, and craniofacial anomalies
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 patien...
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| Опубликовано в: : | Eur J Hum Genet |
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| Главные авторы: | , , , , , , , , , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
Springer International Publishing
2019
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6460580/ https://ncbi.nlm.nih.gov/pubmed/30622326 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-018-0298-9 |
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