Human Genome Epidemiology Literature Finder
Records 1 - 2 (of 2 Records) |
Query Trace: TRAPPC4[original query] |
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Single-cell expression profiling of dopaminergic neurons combined with association analysis identifies pyridoxal kinase as Parkinson's disease gene. Annals of neurology 2009 Dec 66 (6): 792-8. Elstner Matthias, Morris Christopher M, Heim Katharina, Lichtner Peter, Bender Andreas, Mehta Divya, Schulte Claudia, Sharma Manu, Hudson Gavin, Goldwurm Stefano, Giovanetti Alessandro, Zeviani Massimo, Burn David J, McKeith Ian G, Perry Robert H, Jaros E, Krüger Rejko, Wichmann H-Erich, Schreiber Stefan, Campbell Harry, Wilson James F, Wright Alan F, Dunlop Malcolm, Pistis Giorgio, Toniolo Daniela, Chinnery Patrick F, Gasser Thomas, Klopstock Thomas, Meitinger Thomas, Prokisch Holger, Turnbull Douglass |
Recurrent bi-allelic splicing variant c.454+3A>G in TRAPPC4 is associated with progressive encephalopathy and muscle involvement. Brain : a journal of neurology 2020 3 143 (4): e29. Kaur Parneet, Kadavigere Rajagopal, Girisha Katta Mohan, Shukla An |
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- Page last updated:Apr 29, 2024
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