Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP914274.RAHMzaqmqzHJ2GTm3c5YU8WEizwkhvXk9aae2HF7ZLRMg130_assertion> ?p ?o ?g. }
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- NP914274.RAHMzaqmqzHJ2GTm3c5YU8WEizwkhvXk9aae2HF7ZLRMg130_assertion type Assertion NP914274.RAHMzaqmqzHJ2GTm3c5YU8WEizwkhvXk9aae2HF7ZLRMg130_head.
- 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.