Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP30860.RAKHz2LZ76Q0zRp5Ezd3Rq8117hrdNOHEFBXwksppi2Fc130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_curated type ECO_0000205 NP30860.RAKHz2LZ76Q0zRp5Ezd3Rq8117hrdNOHEFBXwksppi2Fc130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP30860.RAKHz2LZ76Q0zRp5Ezd3Rq8117hrdNOHEFBXwksppi2Fc130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP30860.RAKHz2LZ76Q0zRp5Ezd3Rq8117hrdNOHEFBXwksppi2Fc130_provenance.
- NP30860.RAKHz2LZ76Q0zRp5Ezd3Rq8117hrdNOHEFBXwksppi2Fc130_assertion description "[DNA analysis of SPTB in the HS subjects with decreased SPTB mRNA levels revealed the presence of five previously undescribed mutations: R1756X, 781delT and IVS22nt-4G>A, 1502insA and IVS20nt-2A>G.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP30860.RAKHz2LZ76Q0zRp5Ezd3Rq8117hrdNOHEFBXwksppi2Fc130_provenance.
- NP30860.RAKHz2LZ76Q0zRp5Ezd3Rq8117hrdNOHEFBXwksppi2Fc130_assertion evidence source_evidence_curated NP30860.RAKHz2LZ76Q0zRp5Ezd3Rq8117hrdNOHEFBXwksppi2Fc130_provenance.
- NP30860.RAKHz2LZ76Q0zRp5Ezd3Rq8117hrdNOHEFBXwksppi2Fc130_assertion SIO_000772 19538529 NP30860.RAKHz2LZ76Q0zRp5Ezd3Rq8117hrdNOHEFBXwksppi2Fc130_provenance.
- NP30860.RAKHz2LZ76Q0zRp5Ezd3Rq8117hrdNOHEFBXwksppi2Fc130_assertion wasDerivedFrom ctd_human-20130708 NP30860.RAKHz2LZ76Q0zRp5Ezd3Rq8117hrdNOHEFBXwksppi2Fc130_provenance.
- NP30860.RAKHz2LZ76Q0zRp5Ezd3Rq8117hrdNOHEFBXwksppi2Fc130_assertion wasGeneratedBy ECO_0000218 NP30860.RAKHz2LZ76Q0zRp5Ezd3Rq8117hrdNOHEFBXwksppi2Fc130_provenance.
- ctd_human-20130708 importedOn "2013-07-24" NP30860.RAKHz2LZ76Q0zRp5Ezd3Rq8117hrdNOHEFBXwksppi2Fc130_provenance.