Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1643.RAFqvY6bfTVpkp7sSU8FEfopQyleN1WI6gjajLAI_GF5U130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP1643.RAFqvY6bfTVpkp7sSU8FEfopQyleN1WI6gjajLAI_GF5U130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP1643.RAFqvY6bfTVpkp7sSU8FEfopQyleN1WI6gjajLAI_GF5U130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP1643.RAFqvY6bfTVpkp7sSU8FEfopQyleN1WI6gjajLAI_GF5U130_provenance.
- NP1643.RAFqvY6bfTVpkp7sSU8FEfopQyleN1WI6gjajLAI_GF5U130_assertion description "[We screened our cohort of 163 BBS families for mutations in both BBS2 and BBS6 and report the presence of three mutant alleles in affected individuals in four pedigrees.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1643.RAFqvY6bfTVpkp7sSU8FEfopQyleN1WI6gjajLAI_GF5U130_provenance.
- NP1643.RAFqvY6bfTVpkp7sSU8FEfopQyleN1WI6gjajLAI_GF5U130_assertion evidence source_evidence_curated NP1643.RAFqvY6bfTVpkp7sSU8FEfopQyleN1WI6gjajLAI_GF5U130_provenance.
- NP1643.RAFqvY6bfTVpkp7sSU8FEfopQyleN1WI6gjajLAI_GF5U130_assertion SIO_000772 11567139 NP1643.RAFqvY6bfTVpkp7sSU8FEfopQyleN1WI6gjajLAI_GF5U130_provenance.
- NP1643.RAFqvY6bfTVpkp7sSU8FEfopQyleN1WI6gjajLAI_GF5U130_assertion wasDerivedFrom uniprot-2016 NP1643.RAFqvY6bfTVpkp7sSU8FEfopQyleN1WI6gjajLAI_GF5U130_provenance.
- NP1643.RAFqvY6bfTVpkp7sSU8FEfopQyleN1WI6gjajLAI_GF5U130_assertion wasGeneratedBy ECO_0000218 NP1643.RAFqvY6bfTVpkp7sSU8FEfopQyleN1WI6gjajLAI_GF5U130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP1643.RAFqvY6bfTVpkp7sSU8FEfopQyleN1WI6gjajLAI_GF5U130_provenance.