Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability.

doi:10.1007/s00439-017-1795-6

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Article

Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability.

Human genetics - 1 Jul 2017

Bramswig Nuria C, Lüdecke Hermann-Josef, Hamdan Fadi F, Altmüller Janine, Beleggia Filippo, Elcioglu Nursel H, Freyer Catharine, Gerkes Erica H, Demirkol Yasemin Kendir, Knupp Kelly G, Kuechler Alma, Li Yun, Lowenstein Daniel H, Michaud Jacques L, Park Kristen, Stegmann Alexander P A, Veenstra-Knol Hermine E, Wieland Thomas, Wollnik Bernd, Engels Hartmut, Strom Tim M, Kleefstra Tjitske, Wieczorek Dagmar

Abstract excerpt

Pathogenic variants in genes encoding subunits of the spliceosome are the cause of several human diseases, such as neurodegenerative diseases. The RNA splicing process is facilitated by the spliceosome, a large RNA-protein complex consisting of small nuclear ribonucleoproteins (snRNPs), and many other proteins, such as heterogeneous nuclear ribonucleoproteins (hnRNPs). The HNRNPU gene (OMIM *602869) encodes the...

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PMID: 28393272
DOI: 10.1007/s00439-017-1795-6

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HNRNPU

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Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability.PMID 28393272Read ↗

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