Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP184130.RA0a1298-g5AUoRrAUSc4tcsEXka7mM1NYpgSs3stbw3I130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP184130.RA0a1298-g5AUoRrAUSc4tcsEXka7mM1NYpgSs3stbw3I130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP184130.RA0a1298-g5AUoRrAUSc4tcsEXka7mM1NYpgSs3stbw3I130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP184130.RA0a1298-g5AUoRrAUSc4tcsEXka7mM1NYpgSs3stbw3I130_provenance.
- lhgdn-20090331 importedOn "2009-03-31" NP184130.RA0a1298-g5AUoRrAUSc4tcsEXka7mM1NYpgSs3stbw3I130_provenance.
- NP184130.RA0a1298-g5AUoRrAUSc4tcsEXka7mM1NYpgSs3stbw3I130_assertion wasGeneratedBy ECO_0000203 NP184130.RA0a1298-g5AUoRrAUSc4tcsEXka7mM1NYpgSs3stbw3I130_provenance.
- NP184130.RA0a1298-g5AUoRrAUSc4tcsEXka7mM1NYpgSs3stbw3I130_assertion wasDerivedFrom lhgdn-20090331 NP184130.RA0a1298-g5AUoRrAUSc4tcsEXka7mM1NYpgSs3stbw3I130_provenance.
- NP184130.RA0a1298-g5AUoRrAUSc4tcsEXka7mM1NYpgSs3stbw3I130_assertion SIO_000772 15314642 NP184130.RA0a1298-g5AUoRrAUSc4tcsEXka7mM1NYpgSs3stbw3I130_provenance.
- NP184130.RA0a1298-g5AUoRrAUSc4tcsEXka7mM1NYpgSs3stbw3I130_assertion evidence source_evidence_literature NP184130.RA0a1298-g5AUoRrAUSc4tcsEXka7mM1NYpgSs3stbw3I130_provenance.
- NP184130.RA0a1298-g5AUoRrAUSc4tcsEXka7mM1NYpgSs3stbw3I130_assertion description "[We uncovered four different homozygous substitutions in ARL6 in four unrelated families affected with Bardet-Biedl syndrome, two of which disrupt a threonine residue important for GTP binding and function of several related small GTP-binding proteins.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP184130.RA0a1298-g5AUoRrAUSc4tcsEXka7mM1NYpgSs3stbw3I130_provenance.