Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1750.RAbayJmWITV-llTw2Uqa9iUb2KuPe31twrqRiokNhm14k130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_curated type ECO_0000205 NP1750.RAbayJmWITV-llTw2Uqa9iUb2KuPe31twrqRiokNhm14k130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP1750.RAbayJmWITV-llTw2Uqa9iUb2KuPe31twrqRiokNhm14k130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP1750.RAbayJmWITV-llTw2Uqa9iUb2KuPe31twrqRiokNhm14k130_provenance.
- NP1750.RAbayJmWITV-llTw2Uqa9iUb2KuPe31twrqRiokNhm14k130_assertion description "[Albers-Sch�nberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1750.RAbayJmWITV-llTw2Uqa9iUb2KuPe31twrqRiokNhm14k130_provenance.
- NP1750.RAbayJmWITV-llTw2Uqa9iUb2KuPe31twrqRiokNhm14k130_assertion evidence source_evidence_curated NP1750.RAbayJmWITV-llTw2Uqa9iUb2KuPe31twrqRiokNhm14k130_provenance.
- NP1750.RAbayJmWITV-llTw2Uqa9iUb2KuPe31twrqRiokNhm14k130_assertion SIO_000772 11741829 NP1750.RAbayJmWITV-llTw2Uqa9iUb2KuPe31twrqRiokNhm14k130_provenance.
- NP1750.RAbayJmWITV-llTw2Uqa9iUb2KuPe31twrqRiokNhm14k130_assertion wasDerivedFrom uniprot-2016 NP1750.RAbayJmWITV-llTw2Uqa9iUb2KuPe31twrqRiokNhm14k130_provenance.
- NP1750.RAbayJmWITV-llTw2Uqa9iUb2KuPe31twrqRiokNhm14k130_assertion wasGeneratedBy ECO_0000218 NP1750.RAbayJmWITV-llTw2Uqa9iUb2KuPe31twrqRiokNhm14k130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP1750.RAbayJmWITV-llTw2Uqa9iUb2KuPe31twrqRiokNhm14k130_provenance.