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| Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome JG Dauwerse, J Dixon, S Seland, CAL Ruivenkamp, A Van Haeringen, ... Nature genetics 43 (1), 20-22, 2011 | 397 | 2011 |
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| Gene dosage-dependent rescue of HSP neurite defects in SPG4 patients’ neurons S Havlicek, Z Kohl, HK Mishra, I Prots, E Eberhardt, N Denguir, H Wend, ... Human molecular genetics 23 (10), 2527-2541, 2014 | 122 | 2014 |
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