Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP554484.RAIwtpctCGyeJB8Y2Z1U7gtOYla3vmRTMDABuvdZDQILQ130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP554484.RAIwtpctCGyeJB8Y2Z1U7gtOYla3vmRTMDABuvdZDQILQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP554484.RAIwtpctCGyeJB8Y2Z1U7gtOYla3vmRTMDABuvdZDQILQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP554484.RAIwtpctCGyeJB8Y2Z1U7gtOYla3vmRTMDABuvdZDQILQ130_provenance.
- NP554484.RAIwtpctCGyeJB8Y2Z1U7gtOYla3vmRTMDABuvdZDQILQ130_assertion description "[Mutations in human AHI1 underlie the autosomal recessive Joubert Syndrome with brain malformation and mental retardation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP554484.RAIwtpctCGyeJB8Y2Z1U7gtOYla3vmRTMDABuvdZDQILQ130_provenance.
- NP554484.RAIwtpctCGyeJB8Y2Z1U7gtOYla3vmRTMDABuvdZDQILQ130_assertion evidence source_evidence_literature NP554484.RAIwtpctCGyeJB8Y2Z1U7gtOYla3vmRTMDABuvdZDQILQ130_provenance.
- NP554484.RAIwtpctCGyeJB8Y2Z1U7gtOYla3vmRTMDABuvdZDQILQ130_assertion SIO_000772 16773125 NP554484.RAIwtpctCGyeJB8Y2Z1U7gtOYla3vmRTMDABuvdZDQILQ130_provenance.
- NP554484.RAIwtpctCGyeJB8Y2Z1U7gtOYla3vmRTMDABuvdZDQILQ130_assertion wasDerivedFrom befree-2016 NP554484.RAIwtpctCGyeJB8Y2Z1U7gtOYla3vmRTMDABuvdZDQILQ130_provenance.
- NP554484.RAIwtpctCGyeJB8Y2Z1U7gtOYla3vmRTMDABuvdZDQILQ130_assertion wasGeneratedBy ECO_0000203 NP554484.RAIwtpctCGyeJB8Y2Z1U7gtOYla3vmRTMDABuvdZDQILQ130_provenance.
- befree-2016 importedOn "2016-02-19" NP554484.RAIwtpctCGyeJB8Y2Z1U7gtOYla3vmRTMDABuvdZDQILQ130_provenance.