Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP5339.RACZZzCog8xRimZ0mT4m0hM6mmoUIpIikfMv-mmT-Ou70130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP5339.RACZZzCog8xRimZ0mT4m0hM6mmoUIpIikfMv-mmT-Ou70130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP5339.RACZZzCog8xRimZ0mT4m0hM6mmoUIpIikfMv-mmT-Ou70130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP5339.RACZZzCog8xRimZ0mT4m0hM6mmoUIpIikfMv-mmT-Ou70130_provenance.
- NP5339.RACZZzCog8xRimZ0mT4m0hM6mmoUIpIikfMv-mmT-Ou70130_assertion description "[A novel mutation in AlphaA-crystallin (CRYAA) caused autosomal dominant congenital cataract in a large Chinese family.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5339.RACZZzCog8xRimZ0mT4m0hM6mmoUIpIikfMv-mmT-Ou70130_provenance.
- NP5339.RACZZzCog8xRimZ0mT4m0hM6mmoUIpIikfMv-mmT-Ou70130_assertion evidence source_evidence_curated NP5339.RACZZzCog8xRimZ0mT4m0hM6mmoUIpIikfMv-mmT-Ou70130_provenance.
- NP5339.RACZZzCog8xRimZ0mT4m0hM6mmoUIpIikfMv-mmT-Ou70130_assertion SIO_000772 18407550 NP5339.RACZZzCog8xRimZ0mT4m0hM6mmoUIpIikfMv-mmT-Ou70130_provenance.
- NP5339.RACZZzCog8xRimZ0mT4m0hM6mmoUIpIikfMv-mmT-Ou70130_assertion wasDerivedFrom uniprot-2016 NP5339.RACZZzCog8xRimZ0mT4m0hM6mmoUIpIikfMv-mmT-Ou70130_provenance.
- NP5339.RACZZzCog8xRimZ0mT4m0hM6mmoUIpIikfMv-mmT-Ou70130_assertion wasGeneratedBy ECO_0000218 NP5339.RACZZzCog8xRimZ0mT4m0hM6mmoUIpIikfMv-mmT-Ou70130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP5339.RACZZzCog8xRimZ0mT4m0hM6mmoUIpIikfMv-mmT-Ou70130_provenance.