Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP865466.RAqTj9ua0c3qkrWY_2Nd29J5z6RPVDQCjA5T56YMUE3NM130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP865466.RAqTj9ua0c3qkrWY_2Nd29J5z6RPVDQCjA5T56YMUE3NM130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP865466.RAqTj9ua0c3qkrWY_2Nd29J5z6RPVDQCjA5T56YMUE3NM130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP865466.RAqTj9ua0c3qkrWY_2Nd29J5z6RPVDQCjA5T56YMUE3NM130_provenance.
- befree-2016 importedOn "2016-02-19" NP865466.RAqTj9ua0c3qkrWY_2Nd29J5z6RPVDQCjA5T56YMUE3NM130_provenance.
- NP865466.RAqTj9ua0c3qkrWY_2Nd29J5z6RPVDQCjA5T56YMUE3NM130_assertion wasGeneratedBy ECO_0000203 NP865466.RAqTj9ua0c3qkrWY_2Nd29J5z6RPVDQCjA5T56YMUE3NM130_provenance.
- NP865466.RAqTj9ua0c3qkrWY_2Nd29J5z6RPVDQCjA5T56YMUE3NM130_assertion wasDerivedFrom befree-2016 NP865466.RAqTj9ua0c3qkrWY_2Nd29J5z6RPVDQCjA5T56YMUE3NM130_provenance.
- NP865466.RAqTj9ua0c3qkrWY_2Nd29J5z6RPVDQCjA5T56YMUE3NM130_assertion SIO_000772 21236492 NP865466.RAqTj9ua0c3qkrWY_2Nd29J5z6RPVDQCjA5T56YMUE3NM130_provenance.
- NP865466.RAqTj9ua0c3qkrWY_2Nd29J5z6RPVDQCjA5T56YMUE3NM130_assertion evidence source_evidence_literature NP865466.RAqTj9ua0c3qkrWY_2Nd29J5z6RPVDQCjA5T56YMUE3NM130_provenance.
- NP865466.RAqTj9ua0c3qkrWY_2Nd29J5z6RPVDQCjA5T56YMUE3NM130_assertion description "[To describe a novel laminin β-2 (LAMB2) mutation associated with nephrotic syndrome and severe retinal disease without microcoria in a large, multigenerational family with Pierson syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP865466.RAqTj9ua0c3qkrWY_2Nd29J5z6RPVDQCjA5T56YMUE3NM130_provenance.