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Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability

Nuria C. Bramswig; Hermann-Josef Lüdecke; Fadi F. Hamdan; Janine Altmüller; Filippo Beleggia; Nursel H. Elcioglu; Catharine Freyer; Erica H. Gerkes; Yasemin Kendir Demirkol; Kelly G. Knupp; Alma Kuechler; Yun Li; Daniel H. Lowenstein; Jacques L. Michaud; Kristen Park; Alexander P.A. Stegmann; Hermine E. Veenstra-Knol; Thomas Wieland; Bernd Wollnik; Hartmut Engels; Tim M. Strom; Tjitske Kleefstra; Dagmar Wieczorek
Human Genetics · Vol. 136, Issue 7 · pp. 821-834 · 2017

Abstract

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Bibliographic Information

JournalHuman Genetics
PublisherSpringer
Publication Date2017-07-01
Publication Year2017
Volume136
Issue7
Pages821-834
Document TypeJournal Article
Print ISSN0340-6717
eISSN1432-1203
DOI10.1007/s00439-017-1795-6

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NARA Access Coverage1964-01-01~Current
Journal Homepagehttps://www.springer.com/journal/439
Publisher PageOpen Publisher Page
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