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KIAA1797/FOCAD encodes a novel focal adhesion protein with tumour suppressor function in gliomas.
Brockschmidt A, Trost D, Peterziel H, Zimmermann K, Ehrler M, Grassmann H, Pfenning PN, Waha A, Wohlleber D, Brockschmidt FF, Jugold M, Hoischen A, Kalla C, Waha A, Seifert G, Knolle PA, Latz E, Hans VH, Wick W, Pfeifer A, Angel P, Weber RG. Brockschmidt A, et al. Among authors: trost d. Brain. 2012 Apr;135(Pt 4):1027-41. doi: 10.1093/brain/aws045. Epub 2012 Mar 16. Brain. 2012. PMID: 22427331
Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction.
Garret P, Ebstein F, Delplancq G, Dozieres-Puyravel B, Boughalem A, Auvin S, Duffourd Y, Klafack S, Zieba BA, Mahmoudi S, Singh KK, Duplomb L, Thauvin-Robinet C, Costa JM, Krüger E, Trost D, Verloes A, Faivre L, Vitobello A. Garret P, et al. Among authors: trost d. Clin Genet. 2020 Apr;97(4):567-575. doi: 10.1111/cge.13709. Epub 2020 Feb 11. Clin Genet. 2020. PMID: 31997314
319 results