Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP593561.RArqJJS9EKpxvwkpAo8jPmQ2LM6YVLJqR4z7ogs52XlAY130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP593561.RArqJJS9EKpxvwkpAo8jPmQ2LM6YVLJqR4z7ogs52XlAY130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP593561.RArqJJS9EKpxvwkpAo8jPmQ2LM6YVLJqR4z7ogs52XlAY130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP593561.RArqJJS9EKpxvwkpAo8jPmQ2LM6YVLJqR4z7ogs52XlAY130_provenance.
- NP593561.RArqJJS9EKpxvwkpAo8jPmQ2LM6YVLJqR4z7ogs52XlAY130_assertion description "[To our knowledge, this is the first case to date in which an Arg116Cys mutation in the CRYAA gene was associated with nuclear cataract and iris coloboma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP593561.RArqJJS9EKpxvwkpAo8jPmQ2LM6YVLJqR4z7ogs52XlAY130_provenance.
- NP593561.RArqJJS9EKpxvwkpAo8jPmQ2LM6YVLJqR4z7ogs52XlAY130_assertion evidence source_evidence_literature NP593561.RArqJJS9EKpxvwkpAo8jPmQ2LM6YVLJqR4z7ogs52XlAY130_provenance.
- NP593561.RArqJJS9EKpxvwkpAo8jPmQ2LM6YVLJqR4z7ogs52XlAY130_assertion SIO_000772 17296897 NP593561.RArqJJS9EKpxvwkpAo8jPmQ2LM6YVLJqR4z7ogs52XlAY130_provenance.
- NP593561.RArqJJS9EKpxvwkpAo8jPmQ2LM6YVLJqR4z7ogs52XlAY130_assertion wasDerivedFrom befree-2016 NP593561.RArqJJS9EKpxvwkpAo8jPmQ2LM6YVLJqR4z7ogs52XlAY130_provenance.
- NP593561.RArqJJS9EKpxvwkpAo8jPmQ2LM6YVLJqR4z7ogs52XlAY130_assertion wasGeneratedBy ECO_0000203 NP593561.RArqJJS9EKpxvwkpAo8jPmQ2LM6YVLJqR4z7ogs52XlAY130_provenance.
- befree-2016 importedOn "2016-02-19" NP593561.RArqJJS9EKpxvwkpAo8jPmQ2LM6YVLJqR4z7ogs52XlAY130_provenance.