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Details on Person Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54
| Class:Id | LiteratureReference:3165248 |
|---|---|
| _displayName | Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54 |
| _timestamp | 2013-02-22 16:13:40 |
| author | [Person:3165242] Green, Peter [Person:3165238] Wiseman, Matthew [Person:3165226] Crow, Yanick J [Person:3165245] Houlden, Henry [Person:3165254] Riphagen, Shelley [Person:3165239] Lin, Jean-Pierre [Person:3165236] Raymond, F Lucy [Person:3165244] Childs, Anne-Marie [Person:3165231] Sheridan, Eamonn [Person:3165237] Edwards, Sian [Person:3165241] Josifova, Dragana J |
| created | [InstanceEdit:3165246] Jassal, B, 2013-02-22 |
| journal | Am. J. Hum. Genet. |
| pages | 485-9 |
| pubMedIdentifier | 20206331 |
| title | Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54 |
| volume | 86 |
| year | 2010 |
| (literatureReference) | [Reaction:3165230] SLC52A1,2,3 transport RIB from extracellular region to cytosol [Homo sapiens] |
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