Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP1554.RAh7rHRxNxBz_5YCPP4zJDo2LfFH69fy5Rkw1qT56mOoQ130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP1554.RAh7rHRxNxBz_5YCPP4zJDo2LfFH69fy5Rkw1qT56mOoQ130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP1554.RAh7rHRxNxBz_5YCPP4zJDo2LfFH69fy5Rkw1qT56mOoQ130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP1554.RAh7rHRxNxBz_5YCPP4zJDo2LfFH69fy5Rkw1qT56mOoQ130_provenance.
- NP1554.RAh7rHRxNxBz_5YCPP4zJDo2LfFH69fy5Rkw1qT56mOoQ130_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." NP1554.RAh7rHRxNxBz_5YCPP4zJDo2LfFH69fy5Rkw1qT56mOoQ130_provenance.
- NP1554.RAh7rHRxNxBz_5YCPP4zJDo2LfFH69fy5Rkw1qT56mOoQ130_assertion evidence source_evidence_curated NP1554.RAh7rHRxNxBz_5YCPP4zJDo2LfFH69fy5Rkw1qT56mOoQ130_provenance.
- NP1554.RAh7rHRxNxBz_5YCPP4zJDo2LfFH69fy5Rkw1qT56mOoQ130_assertion SIO_000772 18407550 NP1554.RAh7rHRxNxBz_5YCPP4zJDo2LfFH69fy5Rkw1qT56mOoQ130_provenance.
- NP1554.RAh7rHRxNxBz_5YCPP4zJDo2LfFH69fy5Rkw1qT56mOoQ130_assertion wasDerivedFrom uniprot-20130724 NP1554.RAh7rHRxNxBz_5YCPP4zJDo2LfFH69fy5Rkw1qT56mOoQ130_provenance.
- NP1554.RAh7rHRxNxBz_5YCPP4zJDo2LfFH69fy5Rkw1qT56mOoQ130_assertion wasGeneratedBy ECO_0000218 NP1554.RAh7rHRxNxBz_5YCPP4zJDo2LfFH69fy5Rkw1qT56mOoQ130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP1554.RAh7rHRxNxBz_5YCPP4zJDo2LfFH69fy5Rkw1qT56mOoQ130_provenance.