Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP4654.RA9qDw38rBxWNvVLDoZBeAlt4eJZHOzCqiY_KSZ0hxjYM130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP4654.RA9qDw38rBxWNvVLDoZBeAlt4eJZHOzCqiY_KSZ0hxjYM130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP4654.RA9qDw38rBxWNvVLDoZBeAlt4eJZHOzCqiY_KSZ0hxjYM130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP4654.RA9qDw38rBxWNvVLDoZBeAlt4eJZHOzCqiY_KSZ0hxjYM130_provenance.
- NP4654.RA9qDw38rBxWNvVLDoZBeAlt4eJZHOzCqiY_KSZ0hxjYM130_assertion description "[These findings demonstrate that the spectrum of LAMB2-associated disorders is broader than previously anticipated and includes congenital nephrotic syndrome without eye anomalies or with minor ocular changes different from those observed in Pierson syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4654.RA9qDw38rBxWNvVLDoZBeAlt4eJZHOzCqiY_KSZ0hxjYM130_provenance.
- NP4654.RA9qDw38rBxWNvVLDoZBeAlt4eJZHOzCqiY_KSZ0hxjYM130_assertion evidence source_evidence_curated NP4654.RA9qDw38rBxWNvVLDoZBeAlt4eJZHOzCqiY_KSZ0hxjYM130_provenance.
- NP4654.RA9qDw38rBxWNvVLDoZBeAlt4eJZHOzCqiY_KSZ0hxjYM130_assertion SIO_000772 16912710 NP4654.RA9qDw38rBxWNvVLDoZBeAlt4eJZHOzCqiY_KSZ0hxjYM130_provenance.
- NP4654.RA9qDw38rBxWNvVLDoZBeAlt4eJZHOzCqiY_KSZ0hxjYM130_assertion wasDerivedFrom uniprot-2016 NP4654.RA9qDw38rBxWNvVLDoZBeAlt4eJZHOzCqiY_KSZ0hxjYM130_provenance.
- NP4654.RA9qDw38rBxWNvVLDoZBeAlt4eJZHOzCqiY_KSZ0hxjYM130_assertion wasGeneratedBy ECO_0000218 NP4654.RA9qDw38rBxWNvVLDoZBeAlt4eJZHOzCqiY_KSZ0hxjYM130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP4654.RA9qDw38rBxWNvVLDoZBeAlt4eJZHOzCqiY_KSZ0hxjYM130_provenance.