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2015 | Journal Article | IST-REx-ID: 1789 |
A. Kuechler et al., “Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome,” European Journal of Human Genetics, vol. 23, no. 6. Nature Publishing Group, pp. 753–760, 2015.View | DOI | Download Submitted Version (ext.) | PubMed | Europe PMC
2014 | Journal Article | IST-REx-ID: 1916 |
G. Novarino et al., “Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders,” Science, vol. 343, no. 6170. American Association for the Advancement of Science, pp. 506–511, 2014.View | DOI | Download Submitted Version (ext.) | PubMed | Europe PMC