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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...

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Detalles Bibliográficos
Autores principales: Sapir, Tamar, Kshirsagar, Aditya, Gorelik, Anna, Olender, Tsviya, Porat, Ziv, Scheffer, Ingrid E., Goldstein, David B., Devinsky, Orrin, Reiner, Orly
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
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