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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Detalhes bibliográficos
Publicado no:Eur J Hum Genet
Main Authors: Krall, Max, Htun, Stephanie, Schnur, Rhonda E., Brooks, Alice S., Baker, Laura, de Alba Campomanes, Alejandra, Lamont, Ryan E., Gripp, Karen W., Schneidman-Duhovny, Dina, Innes, A. Micheil, Mancini, Grazia M. S., Slavotinek, Anne M.
Formato: Artigo
Idioma:Inglês
Publicado em: Springer International Publishing 2019
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Article
Acesso em linha: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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