Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP3002.RAYRm2OGZqT7LkZK-I7s1Vs19q4gGR8TLzwuVYvVo8YII130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP3002.RAYRm2OGZqT7LkZK-I7s1Vs19q4gGR8TLzwuVYvVo8YII130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP3002.RAYRm2OGZqT7LkZK-I7s1Vs19q4gGR8TLzwuVYvVo8YII130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP3002.RAYRm2OGZqT7LkZK-I7s1Vs19q4gGR8TLzwuVYvVo8YII130_provenance.
- NP3002.RAYRm2OGZqT7LkZK-I7s1Vs19q4gGR8TLzwuVYvVo8YII130_assertion wasGeneratedBy ECO_0000218 NP3002.RAYRm2OGZqT7LkZK-I7s1Vs19q4gGR8TLzwuVYvVo8YII130_provenance.
- NP3002.RAYRm2OGZqT7LkZK-I7s1Vs19q4gGR8TLzwuVYvVo8YII130_assertion wasDerivedFrom uniprot-20130724 NP3002.RAYRm2OGZqT7LkZK-I7s1Vs19q4gGR8TLzwuVYvVo8YII130_provenance.
- NP3002.RAYRm2OGZqT7LkZK-I7s1Vs19q4gGR8TLzwuVYvVo8YII130_assertion SIO_000772 9694901 NP3002.RAYRm2OGZqT7LkZK-I7s1Vs19q4gGR8TLzwuVYvVo8YII130_provenance.
- NP3002.RAYRm2OGZqT7LkZK-I7s1Vs19q4gGR8TLzwuVYvVo8YII130_assertion evidence source_evidence_curated NP3002.RAYRm2OGZqT7LkZK-I7s1Vs19q4gGR8TLzwuVYvVo8YII130_provenance.
- NP3002.RAYRm2OGZqT7LkZK-I7s1Vs19q4gGR8TLzwuVYvVo8YII130_assertion description "[We have previously reported two sisters with chronic Sandhoff disease who were heterozygous for the common HEXB deletion allele.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3002.RAYRm2OGZqT7LkZK-I7s1Vs19q4gGR8TLzwuVYvVo8YII130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP3002.RAYRm2OGZqT7LkZK-I7s1Vs19q4gGR8TLzwuVYvVo8YII130_provenance.