Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP914274.RAHMzaqmqzHJ2GTm3c5YU8WEizwkhvXk9aae2HF7ZLRMg130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP914274.RAHMzaqmqzHJ2GTm3c5YU8WEizwkhvXk9aae2HF7ZLRMg130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP914274.RAHMzaqmqzHJ2GTm3c5YU8WEizwkhvXk9aae2HF7ZLRMg130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP914274.RAHMzaqmqzHJ2GTm3c5YU8WEizwkhvXk9aae2HF7ZLRMg130_provenance.
- NP914274.RAHMzaqmqzHJ2GTm3c5YU8WEizwkhvXk9aae2HF7ZLRMg130_assertion description "[Fragile X syndrome is a neurodevelopmental disorder that is caused by large methylated expansions of a CGG repeat (>200) region upstream of the FMR1 gene that results in the lack of expression of the fragile X mental retardation protein (FMRP).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP914274.RAHMzaqmqzHJ2GTm3c5YU8WEizwkhvXk9aae2HF7ZLRMg130_provenance.
- NP914274.RAHMzaqmqzHJ2GTm3c5YU8WEizwkhvXk9aae2HF7ZLRMg130_assertion evidence source_evidence_literature NP914274.RAHMzaqmqzHJ2GTm3c5YU8WEizwkhvXk9aae2HF7ZLRMg130_provenance.
- NP914274.RAHMzaqmqzHJ2GTm3c5YU8WEizwkhvXk9aae2HF7ZLRMg130_assertion SIO_000772 15629215 NP914274.RAHMzaqmqzHJ2GTm3c5YU8WEizwkhvXk9aae2HF7ZLRMg130_provenance.
- NP914274.RAHMzaqmqzHJ2GTm3c5YU8WEizwkhvXk9aae2HF7ZLRMg130_assertion wasDerivedFrom befree-20140225 NP914274.RAHMzaqmqzHJ2GTm3c5YU8WEizwkhvXk9aae2HF7ZLRMg130_provenance.
- NP914274.RAHMzaqmqzHJ2GTm3c5YU8WEizwkhvXk9aae2HF7ZLRMg130_assertion wasGeneratedBy ECO_0000203 NP914274.RAHMzaqmqzHJ2GTm3c5YU8WEizwkhvXk9aae2HF7ZLRMg130_provenance.
- befree-20140225 importedOn "2014-02-25" NP914274.RAHMzaqmqzHJ2GTm3c5YU8WEizwkhvXk9aae2HF7ZLRMg130_provenance.