Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP6629.RAzVtyXVQb5gcLNYX4QdnkKtUe6wZ54eM9GdQgCiyUktU130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP6629.RAzVtyXVQb5gcLNYX4QdnkKtUe6wZ54eM9GdQgCiyUktU130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP6629.RAzVtyXVQb5gcLNYX4QdnkKtUe6wZ54eM9GdQgCiyUktU130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP6629.RAzVtyXVQb5gcLNYX4QdnkKtUe6wZ54eM9GdQgCiyUktU130_provenance.
- NP6629.RAzVtyXVQb5gcLNYX4QdnkKtUe6wZ54eM9GdQgCiyUktU130_assertion description "[Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6629.RAzVtyXVQb5gcLNYX4QdnkKtUe6wZ54eM9GdQgCiyUktU130_provenance.
- NP6629.RAzVtyXVQb5gcLNYX4QdnkKtUe6wZ54eM9GdQgCiyUktU130_assertion evidence source_evidence_curated NP6629.RAzVtyXVQb5gcLNYX4QdnkKtUe6wZ54eM9GdQgCiyUktU130_provenance.
- NP6629.RAzVtyXVQb5gcLNYX4QdnkKtUe6wZ54eM9GdQgCiyUktU130_assertion SIO_000772 19508969 NP6629.RAzVtyXVQb5gcLNYX4QdnkKtUe6wZ54eM9GdQgCiyUktU130_provenance.
- NP6629.RAzVtyXVQb5gcLNYX4QdnkKtUe6wZ54eM9GdQgCiyUktU130_assertion wasDerivedFrom uniprot-20130724 NP6629.RAzVtyXVQb5gcLNYX4QdnkKtUe6wZ54eM9GdQgCiyUktU130_provenance.
- NP6629.RAzVtyXVQb5gcLNYX4QdnkKtUe6wZ54eM9GdQgCiyUktU130_assertion wasGeneratedBy ECO_0000218 NP6629.RAzVtyXVQb5gcLNYX4QdnkKtUe6wZ54eM9GdQgCiyUktU130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP6629.RAzVtyXVQb5gcLNYX4QdnkKtUe6wZ54eM9GdQgCiyUktU130_provenance.