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Mutations in SNRPE, which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex

✍ Scribed by Pasternack, Sandra M.; Refke, Melanie; Paknia, Elham; Hennies, Hans Christian; Franz, Thomas; Schäfer, Niklas; Fryer, Alan; van Steensel, Maurice; Sweeney, Elizabeth; Just, Miquel; Grimm, Clemens; Kruse, Roland; Ferrándiz, Carlos; Nöthen, Markus M.; Fischer, Utz; Betz, Regina C.

Book ID: 122147092
Publisher: American Society of Human Genetics
Year: 2013
Tongue: English
Weight: 760 KB
Volume: 92
Category: Article
ISSN: 0002-9297
DOI: 10.1016/j.ajhg.2012.10.022

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