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- source_evidence_literature type ECO_0000212 NP928173.RAGkJgynQewbOaEW-rkl4vLHGgxBiKBpVHw9OhknStOlI130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP928173.RAGkJgynQewbOaEW-rkl4vLHGgxBiKBpVHw9OhknStOlI130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP928173.RAGkJgynQewbOaEW-rkl4vLHGgxBiKBpVHw9OhknStOlI130_provenance.
- NP928173.RAGkJgynQewbOaEW-rkl4vLHGgxBiKBpVHw9OhknStOlI130_assertion description "[Specific mutations in at least four genes (whose protein products are essential in lower brain's neuronal and interneuronal functions, including mitochondrial respiratory chains have been identified in unrelated individuals with EIEE and include: (a) the ARX (aristaless-related) homeobox gene at Xp22.13 (EIEE-1 variant); (b) the CDKL5 (SYK9) gene at Xp22 (EIEE-2 variant); (c) the SLC25A22 (GC1) gene at 11p15.5 (EIEE-3 variant); and (d) the Stxbp1 (MUNC18-1) gene at 9q34-1 (EIEE-4 variant).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP928173.RAGkJgynQewbOaEW-rkl4vLHGgxBiKBpVHw9OhknStOlI130_provenance.
- NP928173.RAGkJgynQewbOaEW-rkl4vLHGgxBiKBpVHw9OhknStOlI130_assertion evidence source_evidence_literature NP928173.RAGkJgynQewbOaEW-rkl4vLHGgxBiKBpVHw9OhknStOlI130_provenance.
- NP928173.RAGkJgynQewbOaEW-rkl4vLHGgxBiKBpVHw9OhknStOlI130_assertion SIO_000772 21967765 NP928173.RAGkJgynQewbOaEW-rkl4vLHGgxBiKBpVHw9OhknStOlI130_provenance.
- NP928173.RAGkJgynQewbOaEW-rkl4vLHGgxBiKBpVHw9OhknStOlI130_assertion wasDerivedFrom befree-2016 NP928173.RAGkJgynQewbOaEW-rkl4vLHGgxBiKBpVHw9OhknStOlI130_provenance.
- NP928173.RAGkJgynQewbOaEW-rkl4vLHGgxBiKBpVHw9OhknStOlI130_assertion wasGeneratedBy ECO_0000203 NP928173.RAGkJgynQewbOaEW-rkl4vLHGgxBiKBpVHw9OhknStOlI130_provenance.
- befree-2016 importedOn "2016-02-19" NP928173.RAGkJgynQewbOaEW-rkl4vLHGgxBiKBpVHw9OhknStOlI130_provenance.