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Heterogeneous nuclear ribonucleoprotein U (HNRNPU) safeguards the developing mouse cortex
HNRNPU encodes the heterogeneous nuclear ribonucleoprotein U, which participates in RNA splicing and chromatin organization. Microdeletions in the 1q44 locus encompassing HNRNPU and other genes and point mutations in HNRNPU cause brain disorders, including early-onset seizures and severe intellectua...
Autores principales: | Sapir, Tamar, Kshirsagar, Aditya, Gorelik, Anna, Olender, Tsviya, Porat, Ziv, Scheffer, Ingrid E., Goldstein, David B., Devinsky, Orrin, Reiner, Orly |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9304408/ https://www.ncbi.nlm.nih.gov/pubmed/35864088 http://dx.doi.org/10.1038/s41467-022-31752-z |
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