Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP839172.RA1Bo9aZq8r-J6vIpNRjHEWTNpTZNW9AkLmbeyK5yYIuo130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP839172.RA1Bo9aZq8r-J6vIpNRjHEWTNpTZNW9AkLmbeyK5yYIuo130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP839172.RA1Bo9aZq8r-J6vIpNRjHEWTNpTZNW9AkLmbeyK5yYIuo130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP839172.RA1Bo9aZq8r-J6vIpNRjHEWTNpTZNW9AkLmbeyK5yYIuo130_provenance.
- NP839172.RA1Bo9aZq8r-J6vIpNRjHEWTNpTZNW9AkLmbeyK5yYIuo130_assertion description "[Fragile X syndrome (FXS), a severe neurodevelopmental anomaly, and one of the earliest disorders linked to an unstable ('dynamic') mutation, is caused by the large (>200) CGG repeat expansions in the noncoding portion of the FMR1 (Fragile X Mental Retardation-1) gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP839172.RA1Bo9aZq8r-J6vIpNRjHEWTNpTZNW9AkLmbeyK5yYIuo130_provenance.
- NP839172.RA1Bo9aZq8r-J6vIpNRjHEWTNpTZNW9AkLmbeyK5yYIuo130_assertion evidence source_evidence_literature NP839172.RA1Bo9aZq8r-J6vIpNRjHEWTNpTZNW9AkLmbeyK5yYIuo130_provenance.
- NP839172.RA1Bo9aZq8r-J6vIpNRjHEWTNpTZNW9AkLmbeyK5yYIuo130_assertion SIO_000772 23560306 NP839172.RA1Bo9aZq8r-J6vIpNRjHEWTNpTZNW9AkLmbeyK5yYIuo130_provenance.
- NP839172.RA1Bo9aZq8r-J6vIpNRjHEWTNpTZNW9AkLmbeyK5yYIuo130_assertion wasDerivedFrom befree-20140225 NP839172.RA1Bo9aZq8r-J6vIpNRjHEWTNpTZNW9AkLmbeyK5yYIuo130_provenance.
- NP839172.RA1Bo9aZq8r-J6vIpNRjHEWTNpTZNW9AkLmbeyK5yYIuo130_assertion wasGeneratedBy ECO_0000203 NP839172.RA1Bo9aZq8r-J6vIpNRjHEWTNpTZNW9AkLmbeyK5yYIuo130_provenance.
- befree-20140225 importedOn "2014-02-25" NP839172.RA1Bo9aZq8r-J6vIpNRjHEWTNpTZNW9AkLmbeyK5yYIuo130_provenance.